Publication | Open Access

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

Protein FunctionSignal TransductionAnkyrin RepeatAbnormal ProteinGenetic DisorderMolecular BiologyMolecular GeneticsConserved Tplx MotifDisease Gene IdentificationProtein GeneticsMedicineCell BiologyCell Signaling