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Article

A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella

8 Dec 2023

Abstract excerpt

RESEARCH QUESTION: Is the novel homozygous nonsense variant of AK7 associated with multiple morphological abnormalities of the sperm flagella (MMAF), a specific type of oligoasthenoteratozoospermia leading to male infertility? DESIGN: Whole-exome sequencing and Sanger sequencing were performed to identify potential gene variants. Immunoblotting and immunofluorescence were applied to confirm the relationship...

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PMID: 38492416
DOI: 10.1016/j.rbmo.2023.103765

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