Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_assertion wasGeneratedBy ECO_0000203 NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_assertion wasDerivedFrom befree-20150227 NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_assertion SIO_000772 24727570 NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_assertion evidence source_evidence_literature NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
- NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.