Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.D96H
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F5

NM_000130.5:p.D96H

Associated Papers

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3

[The Clinical Phenotype and Molecular Pathogenic Mechanism of a Family with Hereditary Coagulation Factor V Deficiency].

Guo LP et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2024

Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.

Chen Y et al.

Hamostaseologie, 2023

Clinical Characterization and Molecular Analysis of Fourteen Chinese Patients with Factor V Deficiency.

Zhang K et al.

Hamostaseologie, 2023

Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.

Lin HY et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2023

Analysis of 363 Genetic Variants in F5 via an Interactive Web Database Reveals New Insights into FV Deficiency and FV Leiden.

Efthymiou C et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2023

Perioperative management of intrahepatic cholangiocarcinoma patients with hereditary coagulation factor V deficiency: a case report and literature review.

Lai J et al.

Translational Cancer Research, 2022

[Clinical and genetic analyses of hereditary factor Ⅴ deficiency cases].

Zhang DL et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

A novel mutation of congenital factor V deficiency in Henoch-Schönlein purpura.

Shim YJ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2020

Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs*2) in the F5 gene: A case report.

Park CH et al.

Medicine, 2020

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.

Tabibian S et al.

Seminars in Thrombosis and Hemostasis, 2019

Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.

Suzuki S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria.

Wang X et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients.

Park CH et al.

Annals of Laboratory Medicine, 2016

[Hereditary coagulation factor VII deficiency in a case].

Chen SY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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