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- source_evidence_literature type ECO_0000212 NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_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." NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_assertion evidence source_evidence_literature NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_assertion SIO_000772 7551830 NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_assertion wasDerivedFrom gad-20150221 NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_assertion wasGeneratedBy ECO_0000203 NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.
- gad-20150221 importedOn "2015-02-21" NP191036.RAngnawMTt3fkD_p-vjg-WF494v0-SzKynfc-vIrjlUQI130_provenance.