Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion> ?p ?o ?g. }
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- NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_assertion type Assertion NP1247960.RAGKHEhtQnFRfbdOYeQq0n-bmvbJFn_FxD3ZOVp2QVU1E130_head.
- 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.