Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion description "[Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion evidence source_evidence_literature NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion SIO_000772 22284826 NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion wasDerivedFrom befree-20140225 NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion wasGeneratedBy ECO_0000203 NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.