Varaico: Literature-Extracted Genetic Variants

Gene:CCBE1
Variant:p.C98W
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CCBE1

NM_133459.4:p.C98W

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

Frosk P et al.

Bmc Medical Genetics, 2015

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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."