Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion> ?p ?o ?g. }
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- NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion type Assertion NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_head.
- NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion description "[Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_provenance.
- NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion evidence source_evidence_literature NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_provenance.
- NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion SIO_000772 21858451 NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_provenance.
- NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion wasDerivedFrom befree-2016 NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_provenance.
- NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_assertion wasGeneratedBy ECO_0000203 NP918454.RAc8vhxsAjHyV3ujeDl37ktrXoUjECGqE_uDG07aBprSc130_provenance.