Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion description "[Shwachman-Diamond syndrome (SDS; OMIM 260400), an inherited bone marrow failure syndrome, is caused by mutations in both alleles of the SBDS gene, which encodes a protein of unknown function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion evidence source_evidence_literature NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion SIO_000772 17478638 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion wasDerivedFrom befree-20140225 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_assertion wasGeneratedBy ECO_0000203 NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.
- befree-20140225 importedOn "2014-02-25" NP926787.RAHNMmf7HVhvL_Maa5lVSWLZd_CuEPoSK16yN0c9F2k18130_provenance.