Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.H244fs
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GNAT2

NM_001377295.2:p.H244fs

Associated Papers

GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

Inooka T et al.

Retina (philadelphia, Pa.), 2024

Clinical and Genetic Features of Korean Patients with Achromatopsia.

Choi YJ et al.

Genes, 2023

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J et al.

Human Mutation, 2019

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

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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."