Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.G677V
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TCIRG1

NM_006019.4:p.G677V

Associated Papers

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Del Fattore A et al.

Journal of Medical Genetics, 2006

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

Frattini A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."