Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2166L
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F8

NM_000132.4:p.R2166L

Associated Papers

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

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.

Luu DV et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

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