Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.G116R
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PRH2

NM_001110213.1:p.G116R

Associated Papers

Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.

Martos L et al.

Thrombosis and Haemostasis, 2019

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.

Singh LR et al.

Plos Genetics, 2010

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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."