pseudoexon

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Alexandra Gisbert-Beamud, Anna Tenés, Vanessa Bach, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez

Journal of Medical Genetics Feb 2019, 56 (2) 63-74; DOI: 10.1136/jmedgenet-2018-105606

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pseudoexon