Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion> ?p ?o ?g. }
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- NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion type Assertion NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_head.
- NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion description "[DYT1 dystonia is caused by an autosomal dominant mutation that leads to a glutamic acid deletion in torsinA (TA), a member of the AAA+ ATPase superfamily.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_provenance.
- NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion evidence source_evidence_literature NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_provenance.
- NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion SIO_000772 21102408 NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_provenance.
- NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion wasDerivedFrom befree-2016 NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_provenance.
- NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_assertion wasGeneratedBy ECO_0000203 NP854121.RAGx18TtLvKkHIDUY1Lar7CjAEiAvVaGvVYLYHX13lvCo130_provenance.