Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.L298H
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PDE6C

NM_006204.4:p.L298H

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

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

Structural Analysis of the Regulatory GAF Domains of cGMP Phosphodiesterase Elucidates the Allosteric Communication Pathway.

Gupta R et al.

Journal of Molecular Biology, 2020

Deep Phenotyping of PDE6C-Associated Achromatopsia.

Georgiou M et al.

Investigative Ophthalmology & Visual Science, 2019

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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."