Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion> ?p ?o ?g. }
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- NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion type Assertion NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_head.
- NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_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." NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance.
- NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion evidence source_evidence_literature NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance.
- NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion SIO_000772 18195150 NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance.
- NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion wasDerivedFrom befree-2016 NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance.
- NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_assertion wasGeneratedBy ECO_0000203 NP649940.RAxbPZ_Y8NQ8RREywQLQFO9pXCOPp0PzFa_KDPMtCJyQ4130_provenance.