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- source_evidence_literature type ECO_0000212 NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_assertion description "[The hereditary hemorrhagic telangiectasia family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_assertion evidence source_evidence_literature NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_assertion SIO_000772 18543223 NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_assertion wasDerivedFrom lhgdn-20090331 NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_assertion wasGeneratedBy ECO_0000203 NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP238685.RAyubfNtu8S8hy06r5SQ6cu2IdHb4ZaVDBYga3UBH-AV0130_provenance.