Varaico: Literature-Extracted Genetic Variants

Gene:PRRG1
Variant:p.I199V
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PRRG1

NM_001142395.2:p.I199V

Associated Papers

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Corbett MA et al.

Journal of Medical Genetics, 2015

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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."