A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility.
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DOI: 10.1093/humrep/deab094
Abstract: 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… read more here.
Keywords: tbpl2 identified; tbpl2; maturation defects; oocyte maturation ... See more keywords