Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.F294V
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CLCN7

NM_001114331.3:p.F294V

Associated Papers

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

Chen Y et al.

Frontiers in Pediatrics, 2023

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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."