(Q54425488)
Statements
The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. (English)
Pascaline Gaildrat
Sophie Krieger
Jean-Christophe Théry
Audrey Killian
Antoine Rousselin
Pascaline Berthet
Thierry Frébourg
Agnès Hardouin
Alexandra Martins
Mario Tosi
1 June 2010
47
6
398-403