DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility
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DOI: 10.1002/humu.23955
Abstract: Nijmegen breakage syndrome caused by biallelic pathogenic variants of the DNA‐damage response gene NBN, is characterized by severe microcephaly, cancer proneness, infertility, and karyotype abnormalities. We previously reported NBN variants in siblings suffering from fertility… read more here.
Keywords: repair functional; dna repair; nbn related; functional analyses ... See more keywords