Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_assertion wasGeneratedBy ECO_0000218 NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_assertion wasDerivedFrom ctd_human-20150221 NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_assertion SIO_000772 16237566 NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_assertion evidence source_evidence_curated NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.
- NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_assertion description "[R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30469.RA6n5o0fS6S9Stdd3h1goaF61Ot9Ys4AtLyarU-xa6Dj0130_provenance.