Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion> ?p ?o ?g. }
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- NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion type Assertion NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_head.
- NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion description "[We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_provenance.
- NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion evidence source_evidence_literature NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_provenance.
- NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion SIO_000772 16807713 NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_provenance.
- NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion wasDerivedFrom befree-20140225 NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_provenance.
- NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_assertion wasGeneratedBy ECO_0000203 NP233506.RA817jIDlzKhF34bPebaVbLTMFLBt44OR7x4Ilg3x7xUQ130_provenance.