Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.I261F
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CLCN7

NM_001287.6:p.I261F

Associated Papers

The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.

Wang C et al.

Journal of Bone and Mineral Metabolism, 2012

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

Lam CW et al.

Journal of Human Genetics, 2007

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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."