Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion> ?p ?o ?g. }
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- NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion type Assertion NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_head.
- NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion description "[Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_provenance.
- NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion evidence source_evidence_literature NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_provenance.
- NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion SIO_000772 23754960 NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_provenance.
- NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion wasDerivedFrom befree-20140225 NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_provenance.
- NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_assertion wasGeneratedBy ECO_0000203 NP791783.RAD3pszTkqOiM-f7ixL5IYCWLO0_kmSdePRcTMY_u0RMc130_provenance.