Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion> ?p ?o ?g. }
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- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion type Assertion NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_head.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion wasGeneratedBy ECO_0000203 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion wasDerivedFrom lhgdn-20090331 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion SIO_000772 18021921 NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion evidence source_evidence_literature NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.
- NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_assertion description "[The novel T1174S missense mutation of SCN1A gene was detected segregating in a family with a heterozygous female child and in her heterozygous mother, who had an ataxic migraine syndrome similar to that of her own mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP205350.RA9ekgCSTXTuuKlbUAVa1cDntBKTnv8f-z6PA4x4o0hEc130_provenance.