Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
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DOI: 10.1186/s13148-020-00925-2
Abstract: Background PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of… read more here.
Keywords: maternal effect; locus imprinting; multi locus; function ... See more keywords