Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.C486R
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CNGA3

NM_001298.3:p.C486R

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S et al.

Molecular Genetics & Genomic Medicine, 2020

31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
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