Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- befree-2016 importedOn "2016-02-19" NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_assertion wasGeneratedBy ECO_0000203 NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_assertion wasDerivedFrom befree-2016 NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_assertion SIO_000772 11933209 NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_assertion evidence source_evidence_literature NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.
- NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_assertion description "[The mutation (1084C>T) changes the amino acid arginine at position 362 to the translation stop codon TGA (R362X) resulting in a predicted truncated protein lacking three of the four zinc finger domains necessary for correct functioning of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP350787.RAOUtOpc82ymqMKSOgaN3BtLb_lRETyb920hsMSlhrtv0130_provenance.