Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.K130fs
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CIB2

NM_001301224.2:p.K130fs

Associated Papers

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C et al.

European Journal of Human Genetics : Ejhg, 2016

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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."