Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion> ?p ?o ?g. }
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- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion type Assertion NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_head.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion description "[A missense mutation was identified in the voltage-gated sodium (Na(+))-channel beta 1 subunit gene, SCN1B at chromosome 19p13.1 in generalized epilepsy with the febrile seizures plus type 1 (GEFS+1) family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion evidence source_evidence_literature NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion SIO_000772 11823106 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion wasDerivedFrom befree-20150227 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.
- NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_assertion wasGeneratedBy ECO_0000203 NP682636.RAg8OnELQichG7fPlzqW1VhVngE5WVHhRjKiQiEqW1rV0130_provenance.