Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.R793W
Back to variants list

PDE6C

NM_006204.4:p.R793W

Associated Papers

Structural and functional dynamics of human cone cGMP-phosphodiesterase important for photopic vision.

Singh S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

39739818 (PubMed )
Supplement: pnas.2419732121.sapp.pdf

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

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2020

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."