Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_assertion description "[Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_assertion evidence source_evidence_curated NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_assertion SIO_000772 10441342 NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_assertion wasDerivedFrom ctd_human-2016 NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_assertion wasGeneratedBy ECO_0000218 NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP10427.RAzAjCT_sK2EmbbWYGX5Ahlbb351BmFobNQtbh4xIRpck130_provenance.