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Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility

23 Apr 2022

Abstract excerpt

STUDY QUESTION: Are there new genetic factors responsible for male infertility with normal sperm quantity and morphology? SUMMARY ANSWER: We identified the bi-allelic variants in KCNU1 and confirmed it a novel pathogenetic gene for male infertility mainly due to impaired sperm acrosome reactions (ARs). WHAT IS KNOWN ALREADY: Until now, the underlying genetic determinants for male affected individuals exhibiting...

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PMID: 35551387
DOI: 10.1093/humrep/deac102

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