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- source_evidence_literature type ECO_0000212 NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_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." NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_assertion evidence source_evidence_literature NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_assertion SIO_000772 18195150 NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_assertion wasDerivedFrom befree-20150227 NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_assertion wasGeneratedBy ECO_0000203 NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP239086.RAmr2TguK_A-NtdXIsyJ4nw4GY7pYuMOSdSwrBpyzd6vU130_provenance.