Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

অনুরূপ উপাদানগুলি

• 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
  অনুযায়ী: Whiley, Phillip J., অন্যান্য
  প্রকাশিত: (2011)
• Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity
  অনুযায়ী: Walker, Logan C., অন্যান্য
  প্রকাশিত: (2010)
• Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
  অনুযায়ী: Parsons, Michael T., অন্যান্য
  প্রকাশিত: (2019)
• Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
  অনুযায়ী: Lovelock, Paul K, অন্যান্য
  প্রকাশিত: (2007)
• A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
  অনুযায়ী: Lindor, Noralane M., অন্যান্য
  প্রকাশিত: (2011)