Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_assertion description "[An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_assertion evidence source_evidence_literature NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_assertion SIO_000772 7551830 NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_assertion wasDerivedFrom gad-20150221 NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_assertion wasGeneratedBy ECO_0000203 NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.
- gad-20150221 importedOn "2015-02-21" NP77680.RAyoT7D5OEuQ0lH0L5YHKVAlc5tjBzlCQWJexI96VFesQ130_provenance.