Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.Y561insFs
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PDE6C

NM_006204.4:p.Y561insFs

Associated Papers

A nonhuman primate model of inherited retinal disease.

Moshiri A et al.

The Journal of Clinical Investigation, 2019

30667376 (PubMed )
Supplement: jci-129-123980-s292.xlsx › PDE6C.annotated_reform

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Grau T et al.

Human Molecular Genetics, 2011

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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."