Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion> ?p ?o ?g. }
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- NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion type Assertion NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_head.
- NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion wasGeneratedBy ECO_0000203 NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_provenance.
- NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion wasDerivedFrom befree-20150227 NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_provenance.
- NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion SIO_000772 17341397 NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_provenance.
- NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion evidence source_evidence_literature NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_provenance.
- NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_assertion description "[Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522348.RAtKxJOPjxbv8S6euaxvsKko_6jrCa8jMrIznOhXk0fkc130_provenance.