Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion> ?p ?o ?g. }
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- NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion type Assertion NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_head.
- NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion description "[Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_provenance.
- NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion evidence source_evidence_literature NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_provenance.
- NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion SIO_000772 24755245 NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_provenance.
- NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion wasDerivedFrom befree-2016 NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_provenance.
- NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_assertion wasGeneratedBy ECO_0000203 NP1175698.RAqhpqLB7feX_QDa6rTANJ1EzNEAMcj_3wBOR4fmqowZk130_provenance.