Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion type Assertion NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_head.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_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." NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_provenance.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion evidence source_evidence_literature NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_provenance.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion SIO_000772 15895462 NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_provenance.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion wasDerivedFrom befree-20150227 NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_provenance.
- NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_assertion wasGeneratedBy ECO_0000203 NP782036.RAVnZOeBHpSvvUiOGzAhU3lgv_ivThoFckh7W0XcjeM4I130_provenance.