Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.D34Splc
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PRH2

NM_001110213.1:p.D34Splc

Associated Papers

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Montanelli L et al.

Molecular and Cellular Endocrinology, 2010

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Caprioli J et al.

Blood, 2006

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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."