Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_assertion> ?p ?o ?g. }
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- NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_assertion type Assertion NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_head.
- NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_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." NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_provenance.
- NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_assertion evidence source_evidence_literature NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_provenance.
- NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_assertion SIO_000772 7551830 NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_provenance.
- NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_assertion wasDerivedFrom gad-20130706 NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_provenance.
- NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_assertion wasGeneratedBy ECO_0000203 NP60384.RAiwFfPeMabcTKF-LtNRFZEaFgMEryBqnHMQlpIySnilY130_provenance.