Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion> ?p ?o ?g. }
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- NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion type Assertion NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_head.
- NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion description "[Mutations in JAG1 were detected in three patients with Alagille syndrome (1.3%), while NKX2.5 mutations were seen in two patients with non-syndromic ToF (0.9%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_provenance.
- NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion evidence source_evidence_literature NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_provenance.
- NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion SIO_000772 19948535 NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_provenance.
- NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion wasDerivedFrom befree-20150227 NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_provenance.
- NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_assertion wasGeneratedBy ECO_0000203 NP228664.RAIpTV3zC2dpJFuue5Ej5rkSw6zgfL_m4FPCEPyOggI6E130_provenance.