Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_assertion description "[In 166 patients (25.9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel-Lindau disease, SDHB- or SDHD-PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_assertion evidence source_evidence_literature NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_assertion SIO_000772 17121518 NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_assertion wasDerivedFrom befree-20140225 NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_assertion wasGeneratedBy ECO_0000203 NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP414953.RAU_DFDTQJA5OPAcW4yguKftUtF2fipQ82JgtUTs2GjCU130_provenance.