Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.F251delFs
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ABCA4

NM_000350.3:p.F251delFs

Associated Papers

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

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Stephenson KAJ et al.

International Journal of Molecular Sciences, 2022

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