Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.Y746D
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CLCN7

NM_001287.6:p.Y746D

Associated Papers

Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.

Živković JM et al.

Dna and Cell Biology, 2025

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.

Chen X et al.

Frontiers in Endocrinology, 2024

Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report.

Song XL et al.

World Journal of Clinical Cases, 2022

Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.

Li L et al.

Molecular Medicine Reports, 2019

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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."