Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.G52*
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PRH2

NM_001110213.1:p.G52*

Associated Papers

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R et al.

Human Mutation, 2002

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

Buraczynska M et al.

American Journal of Human Genetics, 1997

SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.

Tomecki R et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."