Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP649934.RAUGL4K1kA_CG_E-NT7h4LXHgbAoAZtVQpAA7Y4_5118k130_provenance.