Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.P629S
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ABCA4

NM_000350.3:p.P629S

Associated Papers

Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Roberts LJ et al.

Molecular Vision, 2012

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.

September AV et al.

Investigative Ophthalmology & Visual Science, 2004

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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."