Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.G264E
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CLCN7

NM_001287.6:p.G264E

Associated Papers

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 mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.

Zhang X et al.

Postgraduate Medicine, 2017

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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."