Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L976delFs
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ABCA4

NM_000350.3:p.L976delFs

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

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
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