Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion type Assertion NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_head.
- NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion description "[Compound heterozygous mutations in the B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a single patient affected with the progeroid form of EDS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_provenance.
- NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion evidence source_evidence_literature NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_provenance.
- NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion SIO_000772 16583246 NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_provenance.
- NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion wasDerivedFrom befree-2016 NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_provenance.
- NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_assertion wasGeneratedBy ECO_0000203 NP543130.RALs-MUs3De2QLsx6e0CyKxu-8-5dBFBQySLQW9ZSLZNg130_provenance.