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- B979b72373cacd391f4b52526e87459f9 hasDbXref "PMID:21112253" @default.
- B979b72373cacd391f4b52526e87459f9 hasDbXref "PMID:24613933" @default.
- B979b72373cacd391f4b52526e87459f9 hasDbXref "PMID:28749637" @default.
- B979b72373cacd391f4b52526e87459f9 hasDbXref "https://clinicalgenome.org/affiliation/40097/" @default.
- B979b72373cacd391f4b52526e87459f9 type Axiom @default.
- B979b72373cacd391f4b52526e87459f9 annotatedProperty IAO_0000115 @default.
- B979b72373cacd391f4b52526e87459f9 annotatedSource MONDO_0700117 @default.
- B979b72373cacd391f4b52526e87459f9 annotatedTarget "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood." @default.