Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.E1482K
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EYS

NM_001142800.2:p.E1482K

Associated Papers

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Fiorentino A et al.

Human Mutation, 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."