Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_assertion description "[The observation of a 1.5 Mb tandem duplication in chromosome 17p11.2, containing the PMP22 gene, in CMT1 and the reciprocal deletion in the same region in HNPP has provided a novel disease paradigm for autosomal dominant disorders, i.e.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_assertion evidence source_evidence_literature NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_assertion SIO_000772 10975746 NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_assertion wasDerivedFrom befree-2016 NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_assertion wasGeneratedBy ECO_0000203 NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.
- befree-2016 importedOn "2016-02-19" NP294328.RAv8c8upYTkfDUpcEbp44ykYhXNxCumifBUBWU_TZJ1s4130_provenance.