Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion description "[Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion evidence source_evidence_literature NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion SIO_000772 22166854 NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion wasDerivedFrom befree-2016 NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion wasGeneratedBy ECO_0000203 NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.
- befree-2016 importedOn "2016-02-19" NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_provenance.