Publications:

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

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: G92C

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Systematic molecular analysis of hemophilia A patients from Colombia.

Genetics And Molecular Biology

Yunis, Luz Karime LK; Linares, Adriana A; Cabrera, Edgar E; Yunis, Juan J JJ

Publication Date: 2018

Variant appearance in text: FVIII: 274G>T

PubMed Link: 30534853

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-1678-4685-GMB-2017-0072.pdf

View BVdb publication page