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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NUP62 | Human | developmental and epileptic encephalopathy 12 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 12 | ClinVar | PMID:28492532 | NUP62 | Human | Striatonigral Degeneration, Infantile | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar | PMID:16786527 | NUP62 | Human | Striatonigral Degeneration, Infantile | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NUP62 | Human | Striatonigral Degeneration, Infantile | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | NUP62 | Human | Striatonigral Degeneration, Infantile | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS and INFANTILE | ClinVar | PMID:25741868 | |