Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.A300V
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CLCN7

NM_001287.6:p.A300V

Associated Papers

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

Živković JM et al.

Dna and Cell Biology, 2025

Identification of a novel mutation in the CLCN7 gene in pediatric osteopetrosis: case report.

Jiang A et al.

Frontiers in Pediatrics, 2025

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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."