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- source_evidence_literature type ECO_0000212 NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_assertion description "[The ANT1 gene, encoding ADP/ATP translocase 1, was investigated in an adult patient with an autosomal recessive mitochondrial disorder characterised by congenital cataracts, hypertrophic cardiomyopathy, myopathy and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_assertion evidence source_evidence_literature NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_assertion SIO_000772 22187496 NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_assertion wasDerivedFrom befree-20140225 NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_assertion wasGeneratedBy ECO_0000203 NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP851096.RAHjB69RqNe87iipo6ysJDjE-9pAbLLLZX62xbTp4z3U0130_provenance.