A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.

Liangyu YaoYifeng GeTian DuTong ChenJinzhao MaNing-Hong Song

Published in: Journal of assisted reproduction and genetics (2023)

Our results showed that a deleterious splicing variant in HFM1 was related to NOA in these two patients. This novel variant of HFM1 may serve as a potential genetic biomarker for NOA patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
gene expression
patient reported outcomes