Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_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." NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_assertion evidence source_evidence_literature NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_assertion SIO_000772 15895462 NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_assertion wasDerivedFrom befree-20150227 NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_assertion wasGeneratedBy ECO_0000203 NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP720363.RAjL7IsiXiEHXZpFai_hE6n_p9x_TrzVKhoVrU2H742L8130_provenance.