Multimodal Assessment of Protein Functional Deficiency Supports Pathogenicity of BRCA1 p.V1688del

Unequivocal discrimination between neutral variants and deleterious mutations is crucial for appropriate counseling of individuals with a BRCA1 or BRCA2 sequence change. An increasing number of variants of uncertain significance (VUSs) are being identified, whose unclassified biological effect poses...

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Bibliografiska uppgifter
Huvudupphovsmän: De Nicolo, Arcangela, Parisini, Emilio, Zhong, Quan, Palma, Maurizia Dalla, Stoeckert, Kathryn A., Domchek, Susan M., Nathanson, Katherine L., Caligo, Maria A., Vidal, Marc, Cusick, Michael E., Garber, Judy E.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2009
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2748232/
https://ncbi.nlm.nih.gov/pubmed/19706752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/0008-5472.CAN-09-1440
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