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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 - 5 (of 5 Records)

Query Trace: Disease and TCIRG1[original query]
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2003 Oct 18 (10): 1740-7.
Frattini Annalisa, Pangrazio Alessandra, Susani Lucia, Sobacchi Cristina, Mirolo Massimiliano, Abinun Mario, Andolina Marino, Flanagan Adrienne, Horwitz Edwin M, Mihci Ercan, Notarangelo Luigi D, Ramenghi Ugo, Teti Anna, Van Hove Johan, Vujic Dragana, Young Terri, Albertini Alberto, Orchard Paul J, Vezzoni Paolo, Villa An
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
European journal of human genetics : EJHG 2009 May 17 (5): 664-72.
Bliznetz Elena A, Tverskaya Svetlana M, Zinchenko Rena A, Abrukova Anna V, Savaskina Ekaterina N, Nikulin Maxim V, Kirillov Alexander G, Ginter Evgeny K, Polyakov Alexander
Epiregulin (EREG) and human V-ATPase (TCIRG1): genetic variation, ethnicity and pulmonary tuberculosis susceptibility in Guinea-Bissau and The Gambia.
Genes and immunity 2014 Sep 15 (6): 370-7.
White M J, Tacconelli A, Chen J S, Wejse C, Hill P C, Gomes V F, Velez-Edwards D R, Østergaard L J, Hu T, Moore J H, Novelli G, Scott W K, Williams S M, Sirugo
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.
JAMA neurology 2017 Jul .
Kunkle Brian W, Vardarajan Badri N, Naj Adam C, Whitehead Patrice L, Rolati Sophie, Slifer Susan, Carney Regina M, Cuccaro Michael L, Vance Jeffery M, Gilbert John R, Wang Li-San, Farrer Lindsay A, Reitz Christiane, Haines Jonathan L, Beecham Gary W, Martin Eden R, Schellenberg Gerard D, Mayeux Richard P, Pericak-Vance Margaret
Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
BMC pediatrics 2021 7 21 (1): 297.
Wu Ping, Cai Zhe, Jiang Wen-Hui, Lu Gen, Wu Pei-Qiong, Xie Zhi-Wei, Peng Jun-Zheng, Chen Chen, Qi Jun-Ye, Xu Li-Zhen, Shen Kun-Ling, Zeng Hua-Song, Yin Gen-Qu
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