Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_assertion description "[Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_assertion evidence source_evidence_curated NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_assertion SIO_000772 11809723 NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_assertion wasDerivedFrom uniprot-2016 NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_assertion wasGeneratedBy ECO_0000218 NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1835.RAnj0zcaHmPwyIXsG9nNll2IkUkHO6-Ul3Ylmwk6uJ-eo130_provenance.