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    Article

    A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

    Roland Kuiper and colleagues identify a homozygous germline nonsense mutation in the base-excision repair gene NTHL1 in three families with recessive inheritance of adenomatous polyposis.

    Robbert D A Weren, Marjolijn J L Ligtenberg, C Marleen Kets… in Nature Genetics (2015)