Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_assertion wasGeneratedBy ECO_0000218 NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_assertion wasDerivedFrom ctd_human-2016 NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_assertion SIO_000772 19006214 NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_assertion evidence source_evidence_curated NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.
- NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_assertion description "[Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP22857.RA9qYtqRfHje7BBydOK6finHFv0oXiEKTGVoNMumiZh8I130_provenance.