Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion> ?p ?o ?g. }
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- NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion type Assertion NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_head.
- NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion description "[First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_provenance.
- NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion evidence source_evidence_literature NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_provenance.
- NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion SIO_000772 25331754 NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_provenance.
- NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion wasDerivedFrom befree-2016 NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_provenance.
- NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_assertion wasGeneratedBy ECO_0000203 NP1230918.RAXUQe3d3-g_ACXUYxpOFrvyX8_ADmqMRzpUq8-GgrrJk130_provenance.