Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G2100E
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ABCA4

NM_000350.3:p.G2100E

Associated Papers

Ambispective study on the phenotypic progression of patients with Stargardt disease associated with ABCA4 gene mutations.

Martel Ramirez VA et al.

Archivos De La Sociedad Espanola De Oftalmologia, 2025

Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

Cevik S et al.

International Journal of Molecular Sciences, 2023

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Villanueva-Mendoza C et al.

Genes, 2021

Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.

Holtan JP et al.

Acta Ophthalmologica, 2021

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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."