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- source_evidence_literature type ECO_0000212 NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_assertion wasGeneratedBy ECO_0000203 NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_assertion wasDerivedFrom befree-20150227 NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_assertion SIO_000772 19243295 NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_assertion evidence source_evidence_literature NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.
- NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_assertion description "[The majority of the mutations identified are identical to germline mutations in FGFR2 and FGFR3 that cause craniosynostosis and hypochondroplasia syndromes and result in both ligand-independent and ligand-dependent receptor activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP400898.RAPymuFZ06sbOyt8Km78ZNTcot6Wefx99aBhDGFaiReOA130_provenance.