Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_assertion description "[Surprisingly, molecular karyotyping to exclude 22q11.2 deletion syndrome in the replication cohort of 17 simplex TA cases revealed a de novo hemizygous deletion that encompasses PRDM1, deficiency of which also results in TA phenotype in mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_assertion evidence source_evidence_literature NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_assertion SIO_000772 25713110 NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_assertion wasDerivedFrom befree-2016 NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_assertion wasGeneratedBy ECO_0000203 NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266166.RA6WFFzq9onWSKLRdUocf8nsiasLlgRDdCkRbs_xMlWNU130_provenance.