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Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Establishing a universally applicable protocol to assess the impact of BRCA1 variants of uncertain significance (VUS) expression is a problem which has yet to be resolved despite major progresses have been made. The numerous difficulties which must be overcome include the choices of cellular models...

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Autors principals: Meryem Ozgencil, Julian Barwell, Marc Tischkowitz, Louise Izatt, Ian Kesterton, Michael Simpson, Paul Sharpe, Paulo de Sepulveda, Edwige Voisset, Ellen Solomon
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science (PLoS) 2021-01-01
Col·lecció:PLoS ONE
Accés en línia:https://doi.org/10.1371/journal.pone.0260852
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