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- source_evidence_literature type ECO_0000212 NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_assertion description "[We report here the first case of an L1CAM gene mutation identified in mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_assertion evidence source_evidence_literature NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_assertion SIO_000772 15904436 NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_assertion wasDerivedFrom befree-2016 NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_assertion wasGeneratedBy ECO_0000203 NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.
- befree-2016 importedOn "2016-02-19" NP495628.RA522T61gjNWJJ8L_UAlw1fjj9oeYyLoM2CVXpPiavtFI130_provenance.