Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion> ?p ?o ?g. }
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- NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion type Assertion NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_head.
- NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion description "[The F508del mutation impairs the trafficking of CFTR from endoplasmic reticulum to plasma membrane and is responsible of a severe form of cystic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_provenance.
- NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion evidence source_evidence_literature NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_provenance.
- NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion SIO_000772 25495980 NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_provenance.
- NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion wasDerivedFrom befree-2016 NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_provenance.
- NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_assertion wasGeneratedBy ECO_0000203 NP1246888.RAKFaW5QpaDUqu2l-EJIDjMXDQ-AXb4CpEGR1hTMT4zCQ130_provenance.