Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion> ?p ?o ?g. }
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- NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion type Assertion NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_head.
- NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion description "[DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_provenance.
- NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion evidence source_evidence_literature NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_provenance.
- NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion SIO_000772 17105745 NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_provenance.
- NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion wasDerivedFrom befree-20150227 NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_provenance.
- NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_assertion wasGeneratedBy ECO_0000203 NP362818.RA5jTyXvtBc3HgsdmPfZFSFploUJ3ONVOBt4_Ilx3HhQU130_provenance.