Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.T291fs
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CNGA3

NM_001298.3:p.T291fs

Associated Papers

Novel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.

Sun R et al.

Experimental and Therapeutic Medicine, 2025

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.

Rasmussen DK et al.

Orphanet Journal of Rare Diseases, 2025

Clinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials.

Lai Y et al.

Frontiers in Medicine, 2025

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

Tanaka N et al.

Plos One, 2015

26407004 (PubMed )
Supplement: pone.0138943.s008.docx
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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."