Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_assertion wasGeneratedBy ECO_0000218 NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_assertion wasDerivedFrom uniprot-2016 NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_assertion SIO_000772 10053006 NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_assertion evidence source_evidence_curated NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.
- NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_assertion description "[We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20.RADn9y4G3SxamV9D0U28pseE1KROk3qQs91GOExOrEUFU130_provenance.