Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.G677V
Back to variants list

CLCN7

NM_001287.6:p.G677V

Associated Papers

Molecular insights into the human CLC-7/Ostm1 transporter.

Zhang S et al.

Science Advances, 2020

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

Peng H et al.

Frontiers in Cell and Developmental Biology, 2020

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.

Bonapace G et al.

Italian Journal of Pediatrics, 2014

Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.

Coudert AE et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2014

Autosomal dominant osteopetrosis revisited: lessons from recent studies.

Bollerslev J et al.

European Journal of Endocrinology, 2013

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."