A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility

Wenbin He, Yaxin Zhang, Chen Tan, Lanlan Meng, Gang Liu, Yuan Li, Fei Gong, Bai‐Lin Wu, Guangxiu Lu, Ge Lin, Juan Du, Yue‐Qiu Tan

2020Journal of genetics and genomics/Journal of Genetics and Genomics33 citationsDOI

Topics & Concepts

SOX10Missense mutationHaploinsufficiencyNonsense mutationGeneticsBiologyMutantMutationExonMolecular biologyPhenotypeGeneNeural crestRNA regulation and diseaseRNA Research and SplicingGenomics and Chromatin Dynamics