Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.A417T
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CLCN7

NM_001287.6:p.A417T

Associated Papers

Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.

Shinwari K et al.

Frontiers in Molecular Biosciences, 2022

In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.

Blair HC et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004

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