Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_assertion> ?p ?o ?g. }
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- NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_assertion type Assertion NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_head.
- NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_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." NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_provenance.
- NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_assertion evidence source_evidence_literature NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_provenance.
- NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_assertion SIO_000772 16583246 NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_provenance.
- NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_assertion wasDerivedFrom befree-20150227 NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_provenance.
- NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_assertion wasGeneratedBy ECO_0000203 NP348449.RAfk7VNyKaNvZS9lTbckontnodKxB2fDA80iXrUGkEORQ130_provenance.