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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyInternational InitiativePathologyPhenotypic VariabilityProgranulin HaploinsufficiencyGenetic VariationMedical GeneticsMedicineGenetic MedicineClinical Genetics