Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.N190S
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CLCN7

NM_001114331.3:p.N190S

Associated Papers

Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis.

Chen Y et al.

Frontiers in Pediatrics, 2023

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

Peng H et al.

Frontiers in Cell and Developmental Biology, 2020

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

Pangrazio A et al.

Human Mutation, 2010

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.

Campos-Xavier AB et al.

American Journal of Medical Genetics. Part A, 2005

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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."