Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_assertion> ?p ?o ?g. }
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- NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_assertion type Assertion NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_head.
- NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_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." NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_provenance.
- NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_assertion evidence source_evidence_literature NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_provenance.
- NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_assertion SIO_000772 21858451 NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_provenance.
- NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_assertion wasDerivedFrom befree-20140225 NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_provenance.
- NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_assertion wasGeneratedBy ECO_0000203 NP793453.RAtXK41t-w14diO4ryTqZK9Q5MHg83lmYOEOORnd3sRkY130_provenance.