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- source_evidence_literature type ECO_0000212 NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- befree-2016 importedOn "2016-02-19" NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_assertion wasGeneratedBy ECO_0000203 NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_assertion wasDerivedFrom befree-2016 NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_assertion SIO_000772 16459121 NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_assertion evidence source_evidence_literature NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.
- NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_assertion description "[Here, an asymptomatic father and his late-onset AHC daughter were both shown to share a novel DAX1 mutation (C200W), the first missense mutation identified in the hinge region of DAX1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP534569.RA5ErdL117NsWH6GA_sODrp97_2Ng6NWPsNgLIxkxe2jk130_provenance.