Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L382S
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ABCA4

NM_000350.3:p.L382S

Associated Papers

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

Kondo H 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."