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- source_evidence_literature type ECO_0000212 NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion description "[We identified a single exon skipping in the ATP7A transcript in cells from the affected proband, affected cousins and obligate carriers in a family with OHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion evidence source_evidence_literature NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion SIO_000772 9467005 NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion wasDerivedFrom befree-20140225 NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion wasGeneratedBy ECO_0000203 NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_provenance.