Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_assertion> ?p ?o ?g. }
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- NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_assertion type Assertion NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_head.
- NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_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." NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_provenance.
- NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_assertion evidence source_evidence_literature NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_provenance.
- NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_assertion SIO_000772 21102408 NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_provenance.
- NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_assertion wasDerivedFrom befree-20140225 NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_provenance.
- NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_assertion wasGeneratedBy ECO_0000203 NP527154.RAWJC7aMPP49h7BvGEQnIa_gm_zKhUebdYU6gm1MBZ6aU130_provenance.