Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion> ?p ?o ?g. }
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- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion type Assertion NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_head.
- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_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." NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_provenance.
- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion evidence source_evidence_literature NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_provenance.
- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion SIO_000772 15895462 NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_provenance.
- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion wasDerivedFrom befree-20150227 NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_provenance.
- NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_assertion wasGeneratedBy ECO_0000203 NP226147.RAV9kzYAPNVk-yRGb4IGIdkyWZk4UXb3L6GQvN9V6P4ic130_provenance.