Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.M1777V
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ABCA4

NM_000350.3:p.M1777V

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.

Whelan L et al.

Scientific Reports, 2023

37296172 (PubMed )
Supplement: 41598_2023_35889_MOESM1_ESM.docx

Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Whelan L et al.

Genes, 2020

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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."