Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.P73L
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PRH2

NM_001110213.1:p.P73L

Associated Papers

Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.

Natorska J et al.

Thrombosis and Haemostasis, 2023

Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.

Alhumaid MS et al.

Acta Haematologica, 2020

Phenotypic Suppression of Streptomycin Resistance by Mutations in Multiple Components of the Translation Apparatus.

Carr JF et al.

Journal of Bacteriology, 2015

Genetic and structure-function studies of missense mutations in human endothelial lipase.

Razzaghi H et al.

Plos One, 2013

High frequency of SERPINA6 polymorphisms that reduce plasma corticosteroid-binding globulin activity in Chinese subjects.

Lin HY et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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."