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Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome

Mohan Liu, Ying Shen, Xueguang Zhang, Xiang Wang, Dan Li, Yan Wang

2020Journal of Assisted Reproduction and Genetics22 citationsDOIOpen Access PDF

Topics & Concepts

Sanger sequencingMinigeneMissense mutationBiologyCompound heterozygosityGeneticsMutationExome sequencingMolecular biologyGeneAndrologyExonMedicineAlternative splicingReproductive Biology and FertilityOvarian function and disordersGenetic Syndromes and Imprinting
Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome | Litcius