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: 602G>A

PubMed Link: 31649737

Variant Present in the following documents:

• Main text
• fgene-10-00974.pdf

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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: G201E

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

British Journal Of Haematology

Leinøe, Eva E; Zetterberg, Eva E; Kinalis, Savvas S; Østrup, Olga O; Kampmann, Peter P; Norström, Eva E; Andersson, Nadine N; Klintman, Jenny J; Qvortrup, Klaus K; Nielsen, Finn Cilius FC; Rossing, Maria M

Publication Date: 2017-10

Variant appearance in text: F8: 602G>A

PubMed Link: 28748566

Variant Present in the following documents:

• BJH-179-308.pdf

View BVdb publication page