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- source_evidence_literature type ECO_0000212 NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP530356.RANmW-ajnIr21UhgwXaLd600bYjCw78ypu4zGa59U_Rh0130_provenance.