Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_assertion description "[Most COL2A1 mutations occur in the triple helical region of alpha 1(II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_assertion evidence source_evidence_literature NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_assertion SIO_000772 15895462 NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_assertion wasDerivedFrom befree-20140225 NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_assertion wasGeneratedBy ECO_0000203 NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP177780.RAbULLx5e5SBm5qFDkIJEL4OkoECADAqNRIcvPYm0y2_A130_provenance.