Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.D166fs
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PDE6C

NM_006204.4:p.D166fs

Associated Papers

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2020

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N et al.

Human Mutation, 2018

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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."