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Biallelic variants inMOScause large polar body in oocyte and human female infertility

7 Jun 2022

Abstract excerpt

STUDY QUESTION: What is the genetic basis of female infertility involving abnormal oocyte morphology with the production of a large first polar body (PB1)? SUMMARY ANSWER: The homozygous missense variant (c.791C>G) and compound missense variants (c.596A>T and c.875C>T) in MOS proto-oncogene, serine/threonine kinase (MOS) (Online Mendelian Inheritance in Man (OMIM) reference: 190060; NM_005372.1) are responsible...

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PMID: 35670744
DOI: 10.1093/humrep/deac120

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