Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion> ?p ?o ?g. }
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- NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion type Assertion NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_head.
- NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion description "[Dopa responsive dystonia (DRD) is an autosomal dominant dystonia caused by mutations in the gene GCH1 in about 50% of cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_provenance.
- NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion evidence source_evidence_literature NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_provenance.
- NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion SIO_000772 11956954 NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_provenance.
- NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion wasDerivedFrom befree-2016 NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_provenance.
- NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_assertion wasGeneratedBy ECO_0000203 NP352115.RAfqnx4klviGii0_kn6A9k9kF0WyCJCI17pKB08nMGFNc130_provenance.