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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN7

Variant:p.R712*

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CLCN7

NM_001287.6:p.R712*

hg38:chr16:1447508 G>A

Associated Papers

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Pangrazio A et al.

Human Mutation, 2010

19953639 (PubMed )

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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."