Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.K286delFs
Back to variants list

PDE6C

NM_006204.4:p.K286delFs

Associated Papers

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

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

Matet A et al.

Scientific Reports, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."