Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion> ?p ?o ?g. }
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- NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_assertion type Assertion NP946372.RASRclvCowYsLeZacBO1sX5CGfz8J3Yg9eot5PT2Ng5lc130_head.
- 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.