Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R1800C
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F8

NM_000132.4:p.R1800C

Associated Papers

Mutational Profile in Romanian Patients with Hemophilia A.

Grigore A et al.

International Journal of Molecular Sciences, 2024

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Atik T et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Guo Z et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.

Santacroce R et al.

Thrombosis Research, 2015

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Nair PS et al.

Plos One, 2014

Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.

Lannoy N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R et al.

Journal of Human Genetics, 2008

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.

Castaman G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.

Ivaskevicius V et al.

British Journal of Haematology, 2001

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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."