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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

BiologyAllelic VariantGenetic DisorderGeneticsPathogenesisGenetic EpidemiologyPathologyCacna1a Pathogenic VariantMolecular GeneticsDisease Gene IdentificationGenomicsMedicineIncomplete PenetranceVariant InterpretationClinical Genetics