Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.W160*
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CNNM4

NM_020184.4:p.W160*

Associated Papers

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."