Splicing and Multifactorial Analysis of Intronic BRCA1 and BRCA2 Sequence Variants Identifies Clinically Significant Splicing Aberrations up to 12 Nucleotides from the Intron/Exon Boundary

Lignende værker

• Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity
  af: Walker, Logan C., et al.
  Udgivet: (2010)
• A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
  af: Lindor, Noralane M., et al.
  Udgivet: (2011)
• Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
  af: Whiley, Phillip J, et al.
  Udgivet: (2010)
• Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
  af: Vallée, Maxime P., et al.
  Udgivet: (2016)
• Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation
  af: Whiley, Phillip J., et al.
  Udgivet: (2014)