FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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Peterlongo P, et al. Among authors: perfumo c.
Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30.
Hum Mol Genet. 2015.
PMID: 26130695
Free PMC article.