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A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns

7 Jun 2023

Abstract excerpt

Male infertility affects more than 20 million men worldwide and is a major public health concern. Male infertility has a strong genetic basis, particularly for those unexplained cases. Here, through genetic analysis of three Pakistani families having eight infertile men with normal parameters in routine semen analysis, we identified a novel ACTL7A variant (c.149_150del, p.E50Afs*6), recessively co-segregating...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37286336
DOI: 10.1111/cge.14383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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