Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion> ?p ?o ?g. }
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- NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion type Assertion NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_head.
- NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion description "[The disease gene has been identified in 10 primary dystonias, seven autosomal dominant (TOR1A/DYT1, GCH1/DYT5a, THAP1/DYT6, PNKD1/MR-1/DYT8, SGCE/DYT11, ATP1A3/DYT12 and SLC2A1/DYT18), two autosomal recessive (TH/DYT5b and PRKRA/DYT16) and one X-chromosomal recessive (TAF1/DYT3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_provenance.
- NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion evidence source_evidence_literature NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_provenance.
- NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion SIO_000772 19578124 NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_provenance.
- NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion wasDerivedFrom befree-2016 NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_provenance.
- NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_assertion wasGeneratedBy ECO_0000203 NP749273.RAJePbhUvOaobJkFH16xOrfWNTIbSKuGK-2htB-QltJHc130_provenance.