Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_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." NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_assertion evidence source_evidence_literature NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_assertion SIO_000772 15895462 NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_assertion wasDerivedFrom befree-2016 NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_assertion wasGeneratedBy ECO_0000203 NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.
- befree-2016 importedOn "2016-02-19" NP494937.RAZ1CDShKEW21A9artG8KCU-faBVbH3VyHWb_XQhc6H_g130_provenance.