Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_assertion> ?p ?o ?g. }
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- NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_assertion type Assertion NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_head.
- NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_assertion wasGeneratedBy ECO_0000203 NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_provenance.
- NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_assertion wasDerivedFrom befree-20140225 NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_provenance.
- NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_assertion SIO_000772 7501157 NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_provenance.
- NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_assertion evidence source_evidence_literature NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_provenance.
- NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_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." NP673071.RAJgLlMksUI7txDTqhQn87K2g8jPwfysv45LdZ962SXxU130_provenance.