Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_assertion wasGeneratedBy ECO_0000218 NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_assertion wasDerivedFrom uniprot-2016 NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_assertion SIO_000772 8188715 NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_assertion evidence source_evidence_curated NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.
- NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_assertion description "[Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8787.RAqZL7uhBrF_11B_nzNDLwT7a0VXMdvj3ztVaSeOoNE0c130_provenance.