Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8
Variant:p.H98Q
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PPP1R8

NM_014110.5:p.H98Q

Associated Papers

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

Meindl A et al.

Nature Genetics, 1996

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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."