HuGE Literature Finder
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Records 1-47
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The rs17084733 variant in the KIT 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility.
Epigenetics 2019 Apr 1-13. Ravegnini Gloria, Serrano César, Simeon Vittorio, Sammarini Giulia, Nannini Margherita, Roversi Erica, Urbini Milena, Ferrè Fabrizio, Ricci Riccardo, Tarantino Giuseppe, Pantaleo Maria A, Hrelia Patrizia, Angelini Sabri |
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New mechanisms of CCR5-?32 carriers' advantage - impact on progenitor cells and renal function.
The international journal of biochemistry & cell biology 2019 Jan . Skrzypkowska Maria, Slominski Bartosz, Ryba-Stanislawowska Monika, Lawrynowicz Urszula, Gutknecht Piotr, Siebert Janu |
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A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.
Cancer 2017 Nov . Tricoli James V, Boardman Lisa A, Patidar Rajesh, Sindiri Sivasish, Jang Jin S, Walsh William D, McGregor Paul M, Camalier Corinne E, Mehaffey Michele G, Furman Wayne L, Bahrami Armita, Williams P Mickey, Lih Chih-Jian, Conley Barbara A, Khan Jav |
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Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis.
Molecular psychiatry 2017 Aug . Authors are not available |
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Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.
Oncotarget 2017 Jun 8 (25): 40683-40692. Cosgarea Ioana, Ugurel Selma, Sucker Antje, Livingstone Elisabeth, Zimmer Lisa, Ziemer Mirjana, Utikal Jochen, Mohr Peter, Pfeiffer Christiane, Pföhler Claudia, Hillen Uwe, Horn Susanne, Schadendorf Dirk, Griewank Klaus G, Roesch Alexand |
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Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wildtype GISTs are rare events.
Human pathology 2017 Jan . Huss Sebastian, Pasternack Hlen, Ihle Michaela Angelika, Merkelbach-Bruse Sabine, Heitkötter Birthe, Hartmann Wolfgang, Trautmann Marcel, Gevensleben Heidrun, Büttner Reinhard, Schildhaus Hans-Ulrich, Wardelmann E |
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Polymorphisms in Inflammatory Mediator Genes and Risk of Preeclampsia in Taiyuan, China.
Reproductive sciences (Thousand Oaks, Calif.) 2016 Aug . Wu Weiwei, Yang Hailan, Feng Yongliang, Zhang Ping, Li Shuzhen, Wang Xin, Peng Tingting, Wang Fang, Xie Bingjie, Guo Pengge, Li Mei, Wang Ying, Zhao Nan, Wang Suping, Zhang Yaw |
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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Neurobiology of aging 2016 Jul . Lubbe S J, Escott-Price V, Brice A, Gasser T, Pittman A M, Bras J, Hardy J, Heutink P, Wood N M, Singleton A B, Grosset D G, Carroll C B, Law M H, Demenais F, Iles M M, , Bishop D T, Newton-Bishop J, Williams N M, Morris H R, |
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Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations.
Oncotarget 2016 Jun . Shin Sang-Yong, Lee Seung-Tae, Kim Hee-Jin, Cho Eun Hae, Kim Jong-Won, Park Silvia, Jung Chul Won, Kim Sun-H |
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KIT polymorphisms were associated with the risk for head and neck squamous carcinoma in Chinese population.
Molecular carcinogenesis 2016 May . Hang Dong, Yuan Hua, Liu Li, Wang Lihua, Miao Limin, Zhu Meng, Du Jiangbo, Dai Juncheng, Hu Zhibin, Chen Ning, Shen Hongbing, Ma Hongx |
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Oncogene Mutation Profiling Reveals Poor Prognosis Associated with FGFR1/3 Mutation in Liposarcoma.
Human pathology 2016 May . Li Chengfang, Shen Yaoyuan, Ren Yan, Liu Wei, Li Man, Liang Weihua, Liu Chunxia, Li Fe |
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Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors.
Cancer letters 2016 Apr . Boublikova L, Bakardjieva-Mihaylova V, Skvarova Kramarzova K, Kuzilkova D, Dobiasova A, Fiser K, Stuchly J, Kotrova M, Buchler T, Dusek P, Grega M, Rosova B, Vernerova Z, Klezl P, Pesl M, Zachoval R, Krolupper M, Kubecova M, Stahalova V, Abrahamova J, Babjuk M, Kodet R, Trka |
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A potentially functional polymorphism in ABCG2 predicts clinical outcome of non-small cell lung cancer in a Chinese population.
The pharmacogenomics journal 2016 Mar . Sun J, Zhu M, Shen W, Wang C, Dai J, Xu L, Jin G, Hu Z, Ma H, Shen |
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The prevalence and clinical profiles of FLT3-ITD, FLT3-TKD, NPM1, C-KIT, DNMT3A, and CEBPA mutations in a cohort of patients with de novo acute myeloid leukemia from southwest China.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015 Dec . Gou Haimei, Zhou Juan, Ye Yuanxin, Hu Xuejiao, Shang Mengqiao, Zhang Jingya, Zhao Zhenzhen, Peng Wu, Zhou Yanhong, Zhou Yi, Song Xingbo, Lu Xiaojun, Ying Bin |
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Genetic alterations in endometrial cancer by targeted next-generation sequencing.
Experimental and molecular pathology 2015 Nov . Chang Ya-Sian, Huang Hsien-Da, Yeh Kun-Tu, Chang Jan-Gow |
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NF1 Mutations Are Common in Desmoplastic Melanoma.
The American journal of surgical pathology 2015 Oct 39 (10): 1357-62. Wiesner Thomas, Kiuru Maija, Scott Sasinya N, Arcila Maria, Halpern Allan C, Hollmann Travis, Berger Michael F, Busam Klaus |
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Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms in oral squamous cell carcinoma in south-east Iran.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2015 Jul . Miri-Moghaddam Ebrahim, Saravani Shirin, Garme Yasamn, Khosravi Arezoo, Bazi Ali, Motazedian Jamaled |
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Ultra-deep targeted sequencing of advanced oral squamous cell carcinoma identifies a mutation-based prognostic gene signature.
Oncotarget 2015 Jul 6 (20): 18066-80. Chen Shu-Jen, Liu Hsuan, Liao Chun-Ta, Huang Po-Jung, Huang Yi, Hsu An, Tang Petrus, Chang Yu-Sun, Chen Hua-Chien, Yen Tzu-Ch |
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Clinicopathological characteristics and mutation profiling in primary cutaneous melanoma.
The American Journal of dermatopathology 2015 May 37 (5): 389-97. Yaman Banu, Akalin Taner, Kandilo?lu Gül? |
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Novel molecular insights from routine genotyping of colorectal carcinomas.
Human pathology 2015 Apr 46 (4): 507-13. Stachler Matthew D, Rinehart Elizabeth, Lindeman Neal, Odze Robert, Srivastava Amita |
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KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Feb 33 (6): 634-42. Joensuu Heikki, Rutkowski Piotr, Nishida Toshirou, Steigen Sonja E, Brabec Peter, Plank Lukas, Nilsson Bengt, Braconi Chiara, Bordoni Andrea, Magnusson Magnus K, Sufliarsky Jozef, Federico Massimo, Jonasson Jon G, Hostein Isabelle, Bringuier Pierre-Paul, Emile Jean-Franco |
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ASSOCIATION BETWEEN MANNOSE-BINDING LECTIN GENE POLYMORPHISMS AND SUSCEPTIBILITY TO DENGUE VIRUS INFECTION: A PRELIMINARY REPORT.
The Southeast Asian journal of tropical medicine and public health 2015 46 Suppl 1 29-34. Prommalikit Olarn, Thisyakorn U |
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Clinicopathological significance of c-KIT mutation in gastrointestinal stromal tumors: a systematic review and meta-analysis.
Scientific reports 2015 5 13718. Yan Lin, Zou Lei, Zhao Wenhua, Wang Yansen, Liu Bo, Yao Hongliang, Yu Haih |
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Demographics, clinical characteristics, IFNL3- and IFNL4- polymorphisms in a cohort of hepatitis C patients from Puerto Rico.
Puerto Rico health sciences journal 2014 Dec 33 (4): 177-83. Morales-Vásquez Lilliana, Miranda-Avalo Edgar I, Rodríguez-Medina José R, Quiñones-Badillo Yomarid, Marqués-Lespier Juan, Muñoz-Acabá José, Pastrana Rafael, Pérez-Cardona Cynthia M, Yamamura Yasuhiro, Torres Esther |
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Comprehensive genomic profiling of relapsed and metastatic adenoid cystic carcinomas by next-generation sequencing reveals potential new routes to targeted therapies.
The American journal of surgical pathology 2014 Feb 38 (2): 235-8. Ross Jeffrey S, Wang Kai, Rand Janna V, Sheehan Christine E, Jennings Timothy A, Al-Rohil Rami N, Otto Geoff A, Curran John C, Palmer Gary, Downing Sean R, Yelensky Roman, Lipson Doron, Balasubramanian Sohail, Garcia Lazaro, Mahoney Kristen, Ali Siraj M, Miller Vincent A, Stephens Philip |
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Frequent KIT mutations in human gastrointestinal stromal tumors.
Scientific reports 2014 4 5907. Xu Zhi, Huo Xinying, Tang Chuanning, Ye Hua, Nandakumar Vijayalakshmi, Lou Feng, Zhang Dandan, Jiang Shouwen, Sun Hong, Dong Haichao, Zhang Guangchun, Liu Zhiyuan, Dong Zhishou, Guo Baishuai, Yan He, Yan Chaowei, Wang Lu, Su Ziyi, Li Yangyang, Gu Dongying, Zhang Xiaojing, Wu Xiaomin, Wei Xiaowei, Hong Lingzhi, Zhang Yangmei, Yang Jinsong, Gong Yonglin, Tang Cuiju, Jones Lindsey, Huang Xue F, Chen Si-Yi, Chen Jinf |
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Correlation of imatinib resistance with the mutational status of KIT and PDGFRA genes in gastrointestinal stromal tumors: a meta-analysis.
Journal of gastrointestinal and liver diseases : JGLD 2013 Dec 22 (4): 413-8. Lee Ju-Han, Kim Younghye, Choi Jung-Woo, Kim Young-S |
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BRAF and KIT somatic mutations are present in amelanotic melanoma.
Melanoma research 2013 Oct 23 (5): 414-9. Massi Daniela, Pinzani Pamela, Simi Lisa, Salvianti Francesca, De Giorgi Vincenzo, Pizzichetta Maria A, Mirri Francesco, Steffan Agostino, Orlando Claudio, Santucci Marco, Canzonieri Vincen |
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Associations of HLA-DRB1 and -DQB1 alleles with severe recurrent respiratory papillomatosis in Korean patients.
Human immunology 2013 Aug 74 (8): 961-4. Song Eun Young, Shin Sue, Park Kyoung Un, Park Myoung Hee, Sung Myung-Whun, Kim Kwang Hyun, Kwon Tack-Ky |
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Impact of molecular analysis on the final sarcoma diagnosis: a study on 763 cases collected during a European epidemiological study.
The American journal of surgical pathology 2013 Aug 37 (8): 1259-68. Neuville Agnes, Ranchère-Vince Dominique, Dei Tos Angelo Paolo, Montesco Maria Cristina, Hostein Isabelle, Toffolatti Luisa, Chibon Frédéric, Pissaloux Daniel, Alberti Laurent, Decouvelaere Anne-Valérie, Albert Sabrina, Rossi Carlo Riccardo, Blay Jean-Yves, Coindre Jean-Mich |
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Genetic variation at KIT locus may predispose to melanoma.
Pigment cell & melanoma research 2013 Jan 26 (1): 88-96. Bourillon Agnes, Hu Hui-Han, Hetet Gilles, Lacapere Jean-Jacques, André Jocelyne, Descamps Vincent, Basset-Seguin Nicole, Ogbah Zighereda, Puig Susana, Saiag Philippe, Bagot Martine, Bensussan Armand, Grandchamp Bernard, Dumaz Nicolas, Soufir Nad |
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Value of epithelioid morphology and PDGFRA immunostaining pattern for prediction of PDGFRA mutated genotype in gastrointestinal stromal tumors (GISTs).
International journal of clinical and experimental pathology 2013 6 (9): 1839-46. Agaimy Abbas, Otto Claudia, Braun Alexander, Geddert Helene, Schaefer Inga-Marie, Haller Flori |
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Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.
Human immunology 2012 Nov 73 (11): 1207-9. Santiago Jose Luis, de la Concha Emilio G, de la Serna Julio Pérez, Sevilla Concepción, Urcelay Elena, de León Antonio Ru |
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IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia and associated with NPM1 mutations and FAB-M2 subtype.
International journal of laboratory hematology 2012 Oct 34 (5): 502-9. Chao H-Y, Jia Z-X, Chen T, Lu X-Z, Cen L, Xiao R, Jiang N-K, Ying J-H, Zhou M, Zhang |
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PRM1 variant rs35576928 (Arg>Ser) is associated with defective spermatogenesis in the Chinese Han population.
Reproductive biomedicine online 2012 Sep . He XJ, Ruan J, Du WD, Chen G, Zhou Y, Xu S, Zuo XB, Cao YX, Zhang XJ |
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Sunitinib as a second-line therapy for advanced GISTs after failure of imatinib: relationship between efficacy and tumor genotype in Korean patients.
Investigational new drugs 2012 Apr 30 (2): 819-27. Yoon Dok Hyun, Ryu Min-Hee, Ryoo Baek-Yeol, Beck Moyeol, Choi Dae Ro, Cho Yoojin, Lee Jae-Lyun, Chang Heung-Moon, Kim Tae Won, Kang Yoon-K |
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A trans-ethnic genetic study of rheumatoid arthritis identified FCGR2A as a candidate common risk factor in Japanese and European populations.
Modern rheumatology / the Japan Rheumatism Association 2012 Feb 22 (1): 52-8. Meziani Roubila, Yamada Ryo, Takahashi Meiko, Ohigashi Kenei, Morinobu Akio, Terao Chikashi, Hiratani Hitomi, Ohmura Koichiro, Yamaguchi Masao, Nomura Takashi, Vasilescu Alexandre, Kokubo Miki, Renault Victor, Hirosawa Katsura, Ratanajaraya Chanavee, Heath Simon, Mimori Tsuneyo, Sakaguchi Shimon, Lathrop Mark, Melchers Inga, Kumagai Shunichi, Matsuda Fumihi |
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Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population.
Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2012 Jan 24 (1): 27-30. Alahdab Y O, Eren F, Giral A, Gunduz F, Kedrah A E, Atug O, Yilmaz Y, Kalayci O, Kalayci |
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Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.
The Journal of investigative dermatology 2011 Feb 131 (2): 371-81. Birlea Stanca A, Jin Ying, Bennett Dorothy C, Herbstman Deborah M, Wallace Margaret R, McCormack Wayne T, Kemp E Helen, Gawkrodger David J, Weetman Anthony P, Picardo Mauro, Leone Giovanni, Taïeb Alain, Jouary Thomas, Ezzedine Khaled, van Geel Nanja, Lambert Jo, Overbeck Andreas, Fain Pamela R, Spritz Richard |
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Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
Human reproduction (Oxford, England) 2010 Apr . Aston KI, Krausz C, Laface I, Ruiz-Castané E, Carrell DT |
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Prevalence and prognostic significance of KIT mutations in pediatric core binding factor AML patients enrolled on serial pediatric cooperative trials for de novo AML.
Blood 2010 Jan . Pollard JA, Alonzo TA, Gerbing RB, Ho PA, Zeng R, Ravindranath Y, Dahl G, Lacayo NJ, Becton D, Chang M, Weinstein HJ, Hirsch B, Raimondi SC, Heerema NA, Woods WG, Lange BJ, Hurwitz C, Arceci RJ, Radich JP, Bernstein ID, Heinrich MC, Meshinchi S |
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Impact of KIT and PDGFRA gene mutations on prognosis of patients with gastrointestinal stromal tumors after complete primary tumor resection.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2009 Sep 13 (9): 1583-92. Hou Ying-Yong, Grabellus Florian, Weber Frank, Zhou Yang, Tan Yun-Shan, Li Jun, Shen Kun-Tang, Qin Jin, Sun Yi-Hong, Qin Xin-Yu, Bockhorn Maximillian, Gerken Guido, Broelsch Christoph E, Frilling Andr |
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The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
PLoS genetics 2009 Sep 5 (9): e1000637. Landa Iñigo, Ruiz-Llorente Sergio, Montero-Conde Cristina, Inglada-Pérez Lucía, Schiavi Francesca, Leskelä Susanna, Pita Guillermo, Milne Roger, Maravall Javier, Ramos Ignacio, Andía Víctor, Rodríguez-Poyo Paloma, Jara-Albarrán Antonino, Meoro Amparo, del Peso Cristina, Arribas Luis, Iglesias Pedro, Caballero Javier, Serrano Joaquín, Picó Antonio, Pomares Francisco, Giménez Gabriel, López-Mondéjar Pedro, Castello Roberto, Merante-Boschin Isabella, Pelizzo Maria-Rosa, Mauricio Didac, Opocher Giuseppe, Rodríguez-Antona Cristina, González-Neira Anna, Matías-Guiu Xavier, Santisteban Pilar, Robledo Merced |
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Genetic mutations associated with cigarette smoking in pancreatic cancer.
Cancer research 2009 Apr 69 (8): 3681-8. Blackford Amanda, Parmigiani Giovanni, Kensler Thomas W, Wolfgang Christopher, Jones Siân, Zhang Xiaosong, Parsons D Willams, Lin Jimmy Cheng-Ho, Leary Rebecca J, Eshleman James R, Goggins Michael, Jaffee Elizabeth M, Iacobuzio-Donahue Christine A, Maitra Anirban, Klein Alison, Cameron John L, Olino Kelly, Schulick Richard, Winter Jordan, Vogelstein Bert, Velculescu Victor E, Kinzler Kenneth W, Hruban Ralph |
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Pigmentation-related genes and their implication in malignant melanoma susceptibility.
Experimental dermatology 2009 Mar . Fernandez LP, Milne RL, Pita G, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G |
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Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.
Molecular vision 2009 15 646-53. Fan Bao Jian, Wang Dan Yi, Cheng Ching-Yu, Ko Wendy Charles, Lam Shun Chiu, Pang Chi P |
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Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women.
Journal of human genetics 2007 52 (6): 502-9. Kim Shin-Yoon, Lee Jong-Young, Kim Ha Young, Oh Bermseok, Kimm Kuchan, Kim Hyung-Lae, Park Byung Lae, Shin Hyoung Doo, Park Eui Kyun, Koh Jung-Min, Kim Ghi |
- Page last reviewed:Jul 30, 2019
- Page last updated:Nov 21, 2019
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