Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Y872delFs
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ABCA4

NM_000350.3:p.Y872delFs

Associated Papers

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Kaltak M et al.

Journal of Translational Medicine, 2023

37587475 (PubMed )
Supplement: 12967_2023_4406_MOESM7_ESM.xlsx › Table_S8

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

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Zernant J et al.

Journal of Medical Genetics, 2017

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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."