Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.K3*
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CALHM3

NM_001129742.2:p.K3*

Associated Papers

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H et al.

American Journal of Human Genetics, 2006

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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."