Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion> ?p ?o ?g. }
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- NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion type Assertion NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_head.
- NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion description "[The phenotypes of four allelic mutations identified in the sodium channel gene Scn8a range from ataxia and muscle weakness through severe dystonia and progressive paralysis, indicating that human mutations in this gene could be associated with a variety of clinical syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_provenance.
- NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion evidence source_evidence_literature NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_provenance.
- NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion SIO_000772 9562526 NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_provenance.
- NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion wasDerivedFrom befree-20150227 NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_provenance.
- NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_assertion wasGeneratedBy ECO_0000203 NP683358.RAIYLYX8bGzfb1WvERF4EIVvFm9OY1_mMsROYGq_8CBTE130_provenance.