Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.F2248S
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ABCA4

NM_000350.3:p.F2248S

Associated Papers

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

Whelan L et al.

Scientific Reports, 2023

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Fadaie Z et al.

Npj Genomic Medicine, 2021

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."