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: FVIII: L69V

PubMed Link: 31267011

Variant Present in the following documents:

• Main text
• 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_Article_45916.pdf

View BVdb publication page

A Molecular Evolutionary Reference for the Human Variome.

Molecular Biology And Evolution

Liu, Li L; Tamura, Koichiro K; Sanderford, Maxwell M; Gray, Vanessa E VE; Kumar, Sudhir S

Publication Date: 2016-01

Variant appearance in text: F8: L69V

PubMed Link: 26464126

Variant Present in the following documents:

• Main text

View BVdb publication page