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: G539R

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.

Diagnostic Pathology

Elmahmoudi, Hejer H; Khodjet-el-khil, Houssein H; Wigren, Edvard E; Jlizi, Asma A; Zahra, Kaouther K; Pellechia, Dorothé D; Vinciguerra, Christine C; Meddeb, Balkis B; Elggaaied, Amel Ben Ammar AB; Gouider, Emna E

Publication Date: 2012-08-10

Variant appearance in text: FVIII: 1615G>C

PubMed Link: 22883072

Variant Present in the following documents:

• Main text
• 1746-1596-7-93.pdf

View BVdb publication page