disease 3,723 words KG: ent-dise-d5f19751
Contents

Variably Protease-Sensitive Prionopathy (VPSPr)

Disease Info
129MMMajority of VPSPr cases
129VVMinority of VPSPr cases
129MVRare in VPSPr (contrast with sCJD)
Gene locationChromosome 20p13
ProteinCellular prion protein (PrP^C)
Normal functionNeuronal signaling, synaptic maintenance
DatabasesOMIMOrphanetClinicalTrialsPubMed

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