Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion> ?p ?o ?g. }
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- NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion type Assertion NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_head.
- NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion description "[We report a novel mutation at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia with marked diurnal fluctuation (HPD)/dopa responsive dystonia (DRD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_provenance.
- NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion evidence source_evidence_literature NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_provenance.
- NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion SIO_000772 7544125 NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_provenance.
- NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion wasDerivedFrom befree-20140225 NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_provenance.
- NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_assertion wasGeneratedBy ECO_0000203 NP459006.RAxNrVx1fpdfQtKZCSj-W9QWJy2cZPROQ4ZtleUkhwqlU130_provenance.