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Novel bi-allelic variants in ACTL7A are associated with male infertility and total fertilization failure

13 Oct 2021

Abstract excerpt

STUDY QUESTION: What are the genetic causes of total fertilization failure (TFF) in a proband suffering from male infertility? SUMMARY ANSWER: Novel compound heterozygous variants (c.[463C>T];[1084G>A], p.[(Arg155Ter)];[(Gly362Arg)]) in actin-like protein 7A (ACTL7A) were identified as a causative genetic factor for human TFF. WHAT IS KNOWN ALREADY: ACTL7A, an actin-related protein, is essential for...

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PMID: 34727571
DOI: 10.1093/humrep/deab228

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