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CEP128 is involved in spermatogenesis in humans and mice

16 Mar 2022

Abstract excerpt

Abstract Centrosomal proteins are necessary components of the centrosome, a conserved eukaryotic organelle essential to the reproductive process. However, few centrosomal proteins have been genetically linked to fertility. Herein we identify a homozygous missense variant of CEP128 (c.665 G > A [p.R222Q]) in two infertile males. Remarkably, male homozygous knock-in mice harboring the orthologous CEP128R222Q...

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PMID: 35296684
DOI: 10.1038/s41467-022-29109-7

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