Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_assertion wasGeneratedBy ECO_0000218 NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_assertion wasDerivedFrom ctd_human-2016 NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_assertion SIO_000772 16237566 NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_assertion evidence source_evidence_curated NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.
- NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_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." NP16293.RAyPKf5G34bKoaqULwIJ56bF6fnHKx7AXbPvY7XoGqn_c130_provenance.