Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion> ?p ?o ?g. }
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- NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion type Assertion NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_head.
- NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion wasGeneratedBy ECO_0000203 NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_provenance.
- NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion wasDerivedFrom befree-20140225 NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_provenance.
- NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion SIO_000772 7501157 NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_provenance.
- NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion evidence source_evidence_literature NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_provenance.
- NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_assertion description "[An ataxic form of GSS is genetically linked to a mutation at codon 102 (CCG-->CTG) leading to the substitution of leucine for proline, while a `telencephalic` variant of GSS, in which dementia is the predominant symptom and ataxia is minimal, has been described in two kindreds with a mutation at codon 117 (GCA-->GTG) resulting in the substitution of valine for alanine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP243937.RAjMBvLhmhR02z_Thbs7zYuLGk6VS2Wi_0MJmjBuge8zk130_provenance.