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  • 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

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Cancer genetics
Original article
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

Authors

  1. Correspondence to Dr. Orland Diez and Dr. Sara Gutiérrez-Enríquez, Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, 08035, Spain; odiez{at}vhio.net, sgutierrez{at}vhio.net
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Citation

Montalban G, Bonache S, Moles-Fernández A, et al
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
Journal of Medical Genetics 2019;56:63-74.

Publication history

  • Received July 12, 2018
  • Revised October 16, 2018
  • Accepted October 28, 2018
  • First published November 24, 2018.
Online issue publication 
January 22, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.