Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.I303F
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CNGA3

NM_001298.3:p.I303F

Associated Papers

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.

Solaki M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki M et al.

Human Mutation, 2022

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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."