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
Topics & Concepts
Sanger sequencingMinigeneMissense mutationBiologyCompound heterozygosityGeneticsMutationExome sequencingMolecular biologyGeneAndrologyExonMedicineAlternative splicingReproductive Biology and FertilityOvarian function and disordersGenetic Syndromes and Imprinting