Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V1887fs
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ABCA4

NM_000350.3:p.V1887fs

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort

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 › S2_PVS1.xlsx › Nonsense_or_Frameshift
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