Varaico: Literature-Extracted Genetic Variants

Gene:ARSF
Variant:p.R54K
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ARSF

NM_001201539.2:p.R54K

Associated Papers

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Zernant J et al.

Cold Spring Harbor Molecular Case Studies, 2018

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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."