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A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility

1 Apr 2021

Abstract excerpt

STUDY QUESTION: What are the genetic causes of oocyte maturation defects? SUMMARY ANSWER: A homozygous splicing variant (c.788 + 3A>G) in TATA-box binding protein like 2 (TBPL2) was identified as a contributory genetic factor in oocyte maturation defects. WHAT IS KNOWN ALREADY: TBPL2, a vertebrate oocyte-specific general transcription factor, is essential for oocyte development. TBPL2 variants have not been...

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PMID: 33893736
DOI: 10.1093/humrep/deab094

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