Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2 generates many unclassified variants (UVs). Most of these UVs are either rare missense substitutions or nucleotide substitutions near the splice junctions of the protein coding exons. Previously, we developed a quantitati...

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Detalles Bibliográficos
Autores principales: Vallée, Maxime P., Di Sera, Tonya L., Nix, David A., Paquette, Andrew M., Parsons, Michael T., Bell, Russel, Hoffman, Andrea, Hogervorst, Frans B. L., Goldgar, David E., Spurdle, Amanda B., Tavtigian, Sean V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907813/
https://www.ncbi.nlm.nih.gov/pubmed/26913838
http://dx.doi.org/10.1002/humu.22973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907813/
https://www.ncbi.nlm.nih.gov/pubmed/26913838
http://dx.doi.org/10.1002/humu.22973

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