Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1341491.RA6pTlY_uubZyX8cxTYg-8tlkSpPl3AaEHkJ21Hmr6amk#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18195150 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The results of screening for mutations in the nuclear genes associated with PEO and multiple mitochondrial DNA deletions, including those in POLG (polymerase gamma gene), ANT1 (gene encoding adenine nucleotide translocator 1), and PEO1, were negative, but sequencing of POLG2 revealed a G1247C mutation in exon 7, resulting in the substitution of a highly conserved glycine with an alanine at codon 416 (G416A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.