Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_assertion wasGeneratedBy ECO_0000218 NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_assertion wasDerivedFrom uniprot-2016 NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_assertion SIO_000772 11055896 NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_assertion evidence source_evidence_curated NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.
- NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_assertion description "[In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1090.RAjJ7Ry2RzUaMWykV8J9UHSvcsQmsyWKY2b97gTiHiQE8130_provenance.