Varaico: Literature-Extracted Genetic Variants

Gene:CNGA1
Variant:p.E194K
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CNGA1

NM_001379270.1:p.E194K

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

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf

Structure of a eukaryotic cyclic-nucleotide-gated channel.

Li M et al.

Nature, 2017

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