Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_assertion description "[Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_assertion evidence source_evidence_curated NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_assertion SIO_000772 16740914 NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_assertion wasDerivedFrom ctd_human-20150221 NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_assertion wasGeneratedBy ECO_0000218 NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP26955.RAEvcEVUO04wGzVOEivXW5Dp_GS2lOcWxg28O5KTF6q0I130_provenance.