Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.V28A
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PRH2

NM_001110213.1:p.V28A

Associated Papers

Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.

Shen MC et al.

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

APECED-causing mutations in AIRE reveal the functional domains of the protein.

Halonen M et al.

Human Mutation, 2004

The carboxyl-terminal valine is required for transport of glycoprotein CD8 alpha from the endoplasmic reticulum to the intermediate compartment.

Iodice L et al.

The Journal of Biological Chemistry, 2001

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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."