Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.R194C
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PROC

NM_000312.4:p.R194C

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

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

Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

Tang W et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.

Martos L et al.

Thrombosis and Haemostasis, 2019

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.

Deng MY et al.

Thrombosis Research, 2016

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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."