Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_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." NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_assertion evidence source_evidence_literature NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_assertion SIO_000772 15895462 NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_assertion wasDerivedFrom befree-2016 NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_assertion wasGeneratedBy ECO_0000203 NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.
- befree-2016 importedOn "2016-02-19" NP494932.RAR-fsfs08Kfona_226qIz7vNZraryYAoxonQrPFcd0mc130_provenance.