A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia

In conclusion, our findings indicate that BCORL1 is a potential candidate gene in the pathogenesis of OAT and NOA, expanded its disease spectrum and suggested that BCORL1 may play a role in spermatogenesis by interacting with SKP1.PMID:38342987 | DOI:10.1111/cge.14500

Source: Clinical Genetics - February 11, 2024 Category: Genetics & Stem Cells Authors: Chen Luo Zixu Chen Lanlan Meng Chen Tan Wenbin He Chaofeng Tu Juan Du Guang-Xiu Lu Ge Lin Yue-Qiu Tan Tong-Yao Hu Source Type: research