Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion> ?p ?o ?g. }
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- NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion type Assertion NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_head.
- NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion description "[This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance.
- NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion evidence source_evidence_literature NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance.
- NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion SIO_000772 25642806 NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance.
- NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion wasDerivedFrom befree-2016 NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance.
- NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion wasGeneratedBy ECO_0000203 NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance.