Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_assertion description "[In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_assertion evidence source_evidence_literature NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_assertion SIO_000772 22926674 NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_assertion wasDerivedFrom befree-2016 NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_assertion wasGeneratedBy ECO_0000203 NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1008425.RAzg7RDqv5SE1dETsP-yzlo0Ie3GZMUeViKD9coKU9zJQ130_provenance.