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: F328L

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

SEC23B is required for the maintenance of murine professional secretory tissues.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tao, Jiayi J; Zhu, Min M; Wang, He H; Afelik, Solomon S; Vasievich, Matthew P MP; Chen, Xiao-Wei XW; Zhu, Guojing G; Jensen, Jan J; Ginsburg, David D; Zhang, Bin B

Publication Date: 2012-07-17

Variant appearance in text: FVIII: F328L

PubMed Link: 22745161

Variant Present in the following documents:

• Main text

View BVdb publication page