Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion> ?p ?o ?g. }
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- NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion type Assertion NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_head.
- NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion description "[We report two patients with partial laminin-?2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion evidence source_evidence_literature NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion SIO_000772 24534542 NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion wasDerivedFrom befree-20150227 NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_assertion wasGeneratedBy ECO_0000203 NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.