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- source_evidence_literature type ECO_0000212 NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_assertion wasGeneratedBy ECO_0000203 NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_assertion wasDerivedFrom befree-2016 NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_assertion SIO_000772 23227268 NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_assertion evidence source_evidence_literature NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.
- NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_assertion description "[A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1034980.RAVzoET_G0aNZD6Eux0_uTu39GmpsAT_dXQwdoy79-lAk130_provenance.