Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.G400S
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PROC

NM_000312.4:p.G400S

Associated Papers

Validation for the function of protein C in mouse models.

Liu Y et al.

Peerj, 2024

The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans.

Nourbakhsh SMK et al.

Clinical Case Reports, 2023

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.

Zhang Z et al.

Medicine, 2022

Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor.

Boucher AA et al.

American Journal of Hematology, 2018

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans.

Al Harbi MS et al.

Case Reports in Dermatological Medicine, 2017

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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."