Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.D269H
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PROC

NM_000312.4:p.D269H

Associated Papers

Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.

Alhenc-Gelas M et al.

Thrombosis and Haemostasis, 2020

In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T.

Hristov D et al.

Mutation Research, 0

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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."