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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNGA1

Variant:p.I303F

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CNGA1

NM_001379270.1:p.I303F

hg38:chr4:47937575 T>A

Associated Papers

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

Solaki M et al.

Human Mutation, 2022

35332618 (PubMed )

Supplement: supplement_1.pdf

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