Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.R104Q
Back to variants list

PDE6C

NM_006204.4:p.R104Q

Associated Papers

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

Deep Phenotyping of PDE6C-Associated Achromatopsia.

Georgiou M et al.

Investigative Ophthalmology & Visual Science, 2019

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."