A homozygous FANCM frameshift pathogenic variant causes male infertility
Sign Up to like & getrecommendations! 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
Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2023.01.07
Abstract: AIM To detect the pathogenic gene variant in a family with neurofibromatosis type 1 (NF1). METHODS This patient with NF1 was sequenced using target sequence capture and high-throughput sequencing technology. After detecting the suspicious pathogenic… read more here.
Keywords: mutation; frameshift pathogenic; family; pathogenic variant ... See more keywords