Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.R704_R705delFs
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CLCN7

NM_001287.6:p.R704_R705delFs

Associated Papers

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Susani L et al.

Human Mutation, 2004

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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."