Publication | Open Access

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

BiologyProtein FunctionLoss-of-function MutationMendelian DisorderGenetic DisorderMedicineGeneticsNatural SciencesGenomic MechanismGenetic MechanismMolecular GeneticsGenomicsGene ExpressionCauses Atypical PhenotypesFunctional Genomics