Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.L278P
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PROC

NM_000312.4:p.L278P

Associated Papers

[Analysis of two cases of hereditary protein C deficiency causing venous thrombosis].

Wen MZ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.

Xu F et al.

Annals of Hematology, 2024

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].

Yan L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].

Xu QY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families.

Xu Q et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021

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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."