Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L2026fs
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ABCA4

NM_000350.3:p.L2026fs

Associated Papers

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Corradi Z et al.

Hgg Advances, 2023

37705246 (PubMed )
Supplement: mmc9.xlsx › Table_S11

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Ben Yosef T et al.

Molecular Vision, 2023

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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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."