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Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

BACKGROUND: Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction...

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Detalles Bibliográficos
Autores principales: Whiley, Phillip J, Pettigrew, Christopher A, Brewster, Brooke L, Walker, Logan C, Spurdle, Amanda B, Brown, Melissa A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2897790/
https://www.ncbi.nlm.nih.gov/pubmed/20507642
http://dx.doi.org/10.1186/1471-2350-11-80