Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L819_N826del8
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ABCA4

NM_000350.3:p.L819_N826del8

Associated Papers

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

Demas N et al.

Bmc Medical Genomics, 2025

40877827 (PubMed )
Supplement: 12920_2025_2186_MOESM3_ESM.pdf

[Genetic structure of populations and characteristics of geographic distribution of autosomal recessive diseases in the Kirov region].

Ginter EK et al.

Genetika, 1994

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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."