Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.D1946V
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F8

NM_000132.4:p.D1946V

Associated Papers

Different Clinical Phenotypes Caused by Three F8 Missense Mutations in Three Chinese Families with Moderate Hemophilia A.

Huang L et al.

Dna and Cell Biology, 2020

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

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

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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."