Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.C75R
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ABCA4

NM_000350.3:p.C75R

Associated Papers

Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging.

Mihalek I et al.

Translational Vision Science & Technology, 2025

40094701 (PubMed )
Supplement: tvst-14-3-16_s002.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

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Cornelis SS et al.

Human Mutation, 2023

40225145 (PubMed )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1

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."