Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion> ?p ?o ?g. }
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- NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion type Assertion NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_head.
- NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion description "[A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_provenance.
- NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion evidence source_evidence_literature NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_provenance.
- NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion SIO_000772 12376946 NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_provenance.
- NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion wasDerivedFrom befree-20150227 NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_provenance.
- NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_assertion wasGeneratedBy ECO_0000203 NP978094.RA2MnpBJCNtSe0ubqhocjTniKul8NEm59KZ_0HMGp7L98130_provenance.