Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_assertion type Assertion NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_head.
- NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_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." NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_provenance.
- NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_assertion evidence source_evidence_literature NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_provenance.
- NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_assertion SIO_000772 22166420 NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_provenance.
- NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_assertion wasDerivedFrom befree-2016 NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_provenance.
- NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_assertion wasGeneratedBy ECO_0000203 NP946300.RAfhxKAusE9JVo9mk-sV_rTkcrlrAfTg6VQvrfvcZ4-Jk130_provenance.