Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.M406I
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PROC

NM_000312.4:p.M406I

Associated Papers

A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation.

Tuo R et al.

Thrombosis Journal, 2025

Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.

Cai Y et al.

Thrombosis and Haemostasis, 2025

The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital.

Wang S et al.

Thrombosis Journal, 2024

The risk profiles of pregnancy-related cerebral venous thrombosis: a retrospective study in a comprehensive hospital.

Wang S et al.

Bmc Neurology, 2024

The clinical and genetic landscape of early-onset thrombophilia in Japan.

Egami N et al.

Pediatric Blood & Cancer, 2024

Surgical treatment of traction retinal detachment associated with compound heterozygous congenital protein C deficiency.

Kurihara T et al.

American Journal of Ophthalmology Case Reports, 2023

Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.

Yu T et al.

Nucleic Acids Research, 2022

36350636 (PubMed )
Supplement: gkac1028_supplemental_file.pdf

Prevalence, Genetic Background, and Clinical Phenotype of Congenital Thrombophilia in Chronic Thromboembolic Pulmonary Hypertension.

Lian TY et al.

Jacc. Asia, 2022

Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Maruyama K et al.

Research and Practice in Thrombosis and Haemostasis, 2021

Hemostatic assessment of combined anticoagulant therapy using warfarin and prothrombin complex concentrates in a case of severe protein C deficiency.

Ogiwara K et al.

International Journal of Hematology, 2019

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.

Inoue H et al.

Pediatric Blood & Cancer, 2017

Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.

Liu H et al.

Gene, 2015

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Kim HJ et al.

Haematologica, 2014

Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians.

Yin T et al.

Journal of Thrombosis and Thrombolysis, 2014

[Phenotypic detection and structure analysis of a PC missense mutation (Met406Ile) resulted in venous thromboembolism].

Zhang L et al.

Zhonghua Yi Xue Za Zhi, 2013

Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.

Takagi A et al.

International Journal of Hematology, 2009

Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients.

Kim HJ et al.

Thrombosis Research, 2008

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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."