Articles with "fancm frameshift" as a keyword



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A homozygous FANCM frameshift pathogenic variant causes male infertility

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Published in 2018 at "Genetics in Medicine"

DOI: 10.1038/s41436-018-0015-7

Abstract: PurposeFanconi anemia (FA) genes play important roles in spermatogenesis. In mice, disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM pathogenic variants (PV) similarly affect fertility in men is unknown. Here we… read more here.

Keywords: homozygous fancm; fancm frameshift; male infertility; fancm ... See more keywords