Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_assertion> ?p ?o ?g. }
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- NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_assertion type Assertion NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_head.
- NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_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." NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_assertion evidence source_evidence_literature NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_assertion SIO_000772 18195150 NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_assertion wasDerivedFrom befree-2016 NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_assertion wasGeneratedBy ECO_0000203 NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.