Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion> ?p ?o ?g. }
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- NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion type Assertion NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_head.
- NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion description "[Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_provenance.
- NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion evidence source_evidence_literature NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_provenance.
- NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion SIO_000772 22166420 NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_provenance.
- NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion wasDerivedFrom befree-2016 NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_provenance.
- NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_assertion wasGeneratedBy ECO_0000203 NP946304.RA1CvDlGyXP86qKWa5h1BqL8oFaVqldB-MAEsAbPAXzwU130_provenance.