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2015
Mark FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo, Paolo ; Catucci, Irene ; Colombo, Mara ; Caleca, Laura ; Mucaki, Eliseos ; Bogliolo, Massimo ; Marin, Maria ; Damiola, Francesca ; Bernard, Loris and Pensotti, Valeria , et al. (2015) In Human Molecular Genetics 24(18). p.5345-5355
- Contribution to journal › Article
2009
Mark Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
Carvalho, Marcelo ; Pino, Maria A. ; Karchin, Rachel ; Beddor, Jennifer ; Godinho-Netto, Martha ; Mesquita, Rafael D. ; Rodarte, Renato S. ; Vaz, Danielle C. ; Monteiro, Viviane A. and Manoukian, Siranoush , et al. (2009) In Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 660(1-2). p.1-11
- Contribution to journal › Article