Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion> ?p ?o ?g. }
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- NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion type Assertion NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_head.
- NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion wasGeneratedBy ECO_0000203 NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_provenance.
- NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion wasDerivedFrom befree-2016 NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_provenance.
- NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion SIO_000772 14534157 NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_provenance.
- NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion evidence source_evidence_literature NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_provenance.
- NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_assertion description "[We report here the first dominant negative mutation in KCNQ2 that has a phenotype of neonatal seizures without permanent clinical CNS impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP416146.RAY9xbTTNhCxpKjn1LIG9ZC2cu2fQVUoQVI9TcAeu8w5s130_provenance.