Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.G304E
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F5

NM_000130.5:p.G304E

Associated Papers

[Analysis of two Chinese pedigrees affected with Hereditary factor V deficiency due to compound heterozygous variants of F5 gene].

Mao P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list

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

[The analysis of a pedigree with hereditary coagulation factor Ⅴ deficiency caused by compound heterozygous variation of F5 gene].

Cheng XL et al.

Zhonghua Yi Xue Za Zhi, 2023

[Analysis of Phenotype and Genotype of A Family with Hereditary Coagulation Factor Ⅴ Deficiency Caused by A Compound Heterozygous Mutation].

Kong RX et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2020

Analysis of phenotype and genotype of a family with hereditary coagulation factor V deficiency caused by the compound heterozygous mutations.

Luo S et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2020

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

[Phenotypic and mutational analysis of a pedigree affected with hereditary coagulation factor Ⅴ deficiency].

Tian M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.

Delev D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

[Hereditary coagulation factor VII deficiency in a case].

Chen SY et al.

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

Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency.

Dong R et al.

Acta Haematologica, 0

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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."