Varaico: Literature-Extracted Genetic Variants

Gene:REPS2
Variant:p.P248S
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REPS2

NM_004726.3:p.P248S

Associated Papers

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M et al.

Human Molecular Genetics, 2009

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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."