Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P862L
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ABCA4

NM_000350.3:p.P862L

Associated Papers

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants

Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender.

Schmidt S et al.

Molecular Vision, 2000

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.

De La Paz MA et al.

Ophthalmology, 1999

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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."