Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion> ?p ?o ?g. }
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- NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_assertion type Assertion NP673592.RABxk_3AZy1oX-rynDf0ZPClLxBI0JBbWrMtGNQjgE1fs130_head.
- 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.