Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion description "[Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion evidence source_evidence_literature NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion SIO_000772 20577004 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion wasDerivedFrom befree-20140225 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion wasGeneratedBy ECO_0000203 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.