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- source_evidence_literature type ECO_0000212 NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_assertion description "[Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_assertion evidence source_evidence_literature NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_assertion SIO_000772 21907011 NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_assertion wasDerivedFrom befree-20140225 NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_assertion wasGeneratedBy ECO_0000203 NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP671316.RAZay_CpHFeb00u4iZ6Nj4UEWqHI6cCH02y__8SwP88dM130_provenance.