Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.R176C
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PRH1

NM_001393989.1:p.R176C

Associated Papers

Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Lee SH et al.

Oncotarget, 2017

28179590 (PubMed )
Supplement: oncotarget-08-6579-s002.xlsx › Table_S2

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Dutrannoy V et al.

Human Mutation, 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."