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A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility

4 Sept 2024

Abstract excerpt

Pannexin1 (PANX1) is a highly glycosylated membrane channel-forming protein, which has been found to implicate in multiple physiological and pathophysiological functions. Variants in the PANX1 gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In this study, we identified a novel heterozygous PANX1 variant (NM_015368.4 c.410 C > T (p.Ser137Leu)) associated...

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PMID: 39232764
DOI: 10.1186/s13048-024-01462-9

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