Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_assertion description "[Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_assertion evidence source_evidence_literature NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_assertion SIO_000772 25643588 NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_assertion wasDerivedFrom befree-2016 NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_assertion wasGeneratedBy ECO_0000203 NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1260244.RAhOxDQsmca3801Hr5zGEZ8auLEcYJfnSrzcGnw0tGQRE130_provenance.