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A rare frameshift mutation inSYCP1is associated with human male infertility

1 Apr 2022

Abstract excerpt

Proper assembly of the synaptonemal complex is essential for successful meiosis, and impairments in the process lead to infertility. Meiotic transverse filament proteins encoded by the SYCP1 (synaptonemal complex protein 1) gene are one of the main components of the synaptonemal complex and play an important role in correct synapsis and recombination. Family-based whole-exome sequencing revealed a rare homozygous...

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PMID: 35377450
DOI: 10.1093/molehr/gaac009

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