Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion> ?p ?o ?g. }
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- NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion type Assertion NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_head.
- NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion description "[We report, for a first time, a KCNQ1 mutation in a family suffering of both phenotypes, suggesting that KCNQ1 genetic variations may confer susceptibility for recurrent seizure activity increasing the risk or lead to sudden death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_provenance.
- NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion evidence source_evidence_literature NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_provenance.
- NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion SIO_000772 25645639 NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_provenance.
- NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion wasDerivedFrom befree-2016 NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_provenance.
- NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_assertion wasGeneratedBy ECO_0000203 NP1260436.RAy2DhYn9yr3pejY4pKfZdruGclQ4zcdxWTsEbJ95tk7g130_provenance.