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Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China

Biallelic VariantsGenetic DisorderDisease PrevalenceGenetic EpidemiologySevere PhenotypesHuman PolymorphismNeurologyPublic HealthMedicineEpidemiologyVariant InterpretationClinical Genetics