Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion> ?p ?o ?g. }
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- NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion type Assertion NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_head.
- NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion description "[Novel ATP1A2 mutations were found in two of the 20 families (10%)/p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_provenance.
- NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion evidence source_evidence_literature NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_provenance.
- NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion SIO_000772 18028407 NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_provenance.
- NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion wasDerivedFrom lhgdn-20090331 NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_provenance.
- NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_assertion wasGeneratedBy ECO_0000203 NP205342.RA1KeNSs7gPd-JGS0_9T1bwhNsmWiCbL1cNpl6Audgzm4130_provenance.