Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion> ?p ?o ?g. }
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- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion type Assertion NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_head.
- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_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." NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_provenance.
- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion evidence source_evidence_literature NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_provenance.
- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion SIO_000772 15895462 NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_provenance.
- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion wasDerivedFrom befree-20150227 NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_provenance.
- NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_assertion wasGeneratedBy ECO_0000203 NP782123.RA8CsdvBsf4vvBVjp0c6Ir6eY-7f17vE3YIMPUayV47jc130_provenance.