Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion description "[Using exome sequencing, we identified compound heterozygous missense mutations in DAG1 in a patient with asymptomatic hyperCKemia and pathologically mild muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion evidence source_evidence_literature NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion SIO_000772 25503980 NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion wasDerivedFrom befree-2016 NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion wasGeneratedBy ECO_0000203 NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.
- befree-2016 importedOn "2016-02-19" NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_provenance.