Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion> ?p ?o ?g. }
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- NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion type Assertion NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_head.
- NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion description "[All patients with POMT1 and POMT2 mutations had evidence of either structural or functional central nervous system involvement including four patients with mental retardation and a LGMD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_provenance.
- NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion evidence source_evidence_literature NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_provenance.
- NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion SIO_000772 17878207 NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_provenance.
- NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion wasDerivedFrom befree-2016 NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_provenance.
- NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_assertion wasGeneratedBy ECO_0000203 NP630709.RAun_CqdEMQq8CtzOqa7uiVYziKIIdcnNepXQuRYvZJUA130_provenance.