Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_assertion wasGeneratedBy ECO_0000203 NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_assertion wasDerivedFrom befree-20140225 NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_assertion SIO_000772 23103230 NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_assertion evidence source_evidence_literature NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_assertion description "[Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.
- befree-20140225 importedOn "2014-02-25" NP591532.RA-XzeY6m_OFzcLXYZUho_mTt9xcbT1ACnJa56uevh6Is130_provenance.