Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.R767P
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CLCN7

NM_001287.6:p.R767P

Associated Papers

Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.

Schrecker M et al.

Elife, 2020

A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis.

Peng H et al.

Frontiers in Cell and Developmental Biology, 2020

ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.

Leisle L et al.

The Embo Journal, 2011

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Pangrazio A et al.

Human Mutation, 2010

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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."