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Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia

8 Jun 2022

Abstract excerpt

KASH5 is an essential component of the LINC (linker of the nucleoskeleton and cytoskeleton) complex that regulates chromosome movements and nuclear envelope (NE) remodeling in mouse spermatocytes during meiosis prophase I, but its expression and function in human cells, as well as its association with male infertility are largely unknown. In this study, a novel heterozygous copy number variation (CNV) (seq...

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PMID: 35674372
DOI: 10.1093/molehr/gaac021

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