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List of works by Omar Soukarieh

A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant

scientific article published on 19 January 2021

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

scientific article published on 08 July 2020

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

scientific article published on 13 January 2016

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

scientific article published on 07 January 2021

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

scientific article published on 04 May 2020

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