Publications:

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.

Frontiers In Genetics

Balestra, Dario D; Maestri, Iva I; Branchini, Alessio A; Ferrarese, Mattia M; Bernardi, Francesco F; Pinotti, Mirko M

Publication Date: 2019

Variant appearance in text: F8: 669A>T

PubMed Link: 31649737

Variant Present in the following documents:

• Main text
• fgene-10-00974.pdf

View BVdb publication page

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: E223D

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page