Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.P165L
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PRH2

NM_001110213.1:p.P165L

Associated Papers

Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19.

Fevraleva I et al.

Genes, 2023

Prothrombotic variants as modifiers of clinical phenotype in four related individuals with haemophilia A.

Carrel L et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.

Yasukawa R et al.

Genes, 2019

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Ali BR et al.

Plos One, 2011

Site-directed mutagenesis of the SH2- and SH3-coding domains of c-src produces varied phenotypes, including oncogenic activation of p60c-src.

Hirai H et al.

Molecular and Cellular Biology, 1990

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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."