Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_assertion description "[Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_assertion evidence source_evidence_curated NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_assertion SIO_000772 19855393 NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_assertion wasDerivedFrom ctd_human-20150221 NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_assertion wasGeneratedBy ECO_0000218 NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP14797.RAFJcy4wU3_gwiTYQSKTYUNiaFaVIVLEmzFXw4FDmvPvg130_provenance.