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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and SPTLC1[original query]
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain : a journal of neurology 2009 Oct 132 (Pt 10): 2699-711.
Rotthier Annelies, Baets Jonathan, De Vriendt Els, Jacobs An, Auer-Grumbach Michaela, Lévy Nicolas, Bonello-Palot Nathalie, Kilic Sara Sebnem, Weis Joachim, Nascimento Andrés, Swinkels Marielle, Kruyt Moyo C, Jordanova Albena, De Jonghe Peter, Timmerman Vince
Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults.
The Journal of nutrition 2012 Jul .
Clifford AJ, Chen K, McWade L, Rincon G, Kim SH, Holstege DM, Owens JE, Liu B, Müller HG, Medrano JF, Fadel JG, Moshfegh AJ, Baer DJ, Novotny JA
Genetic variation modifies risk for neurodegeneration based on biomarker status. GWAS Catalog
Frontiers in aging neuroscience 2014 6 183.
Hohman Timothy J, Koran Mary Ellen I, Thornton-Wells Tricia A,
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
European journal of neurology 2021 7 28 (11): 3774-3783.
Xie Yongzhi, Lin Zhiqiang, Liu Lei, Li Xiaobo, Huang Shunxiang, Zhao Huadong, Wang Binghao, Zeng Sen, Cao Wanqian, Li Lu, Zhu Xiying, Huang Siwei, Yang Honglan, Wang Mengli, Hu Zhengmao, Wang Junling, Guo Jifeng, Shen Lu, Jiang Hong, Zuchner Stephan, Tang Beisha, Zhang Ru
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Human genomics 2023 3 17 (1): 28.
Li Chunyu, Hou Yanbing, Wei Qianqian, Lin Junyu, Jiang Zheng, Jiang Qirui, Yang Tianmi, Xiao Yi, Huang Jingxuan, Cheng Yangfan, Ou Ruwei, Liu Kuncheng, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Cao Bei, Chen Yongping, Shang Huifa
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
The British journal of dermatology 2023 1 188 (1): 94-99.
Jägle Sabine, Hsu Hao-Hsiang, Juratli Hazem A, Zimmer Andreas D, Prieschl Amelie, Alter Svenja, Wiedenhofer Bernhard, Metze Dieter, Emmert Steffen, Fischer Judi
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