Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion> ?p ?o ?g. }
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- NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion type Assertion NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_head.
- NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion description "[We describe a patient with SMEI and enlarged muscle mitochondria associated with mutations in mitochondrial polymerase gamma 1 (POLG1) and SCN1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_provenance.
- NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion evidence source_evidence_literature NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_provenance.
- NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion SIO_000772 19359143 NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_provenance.
- NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion wasDerivedFrom befree-2016 NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_provenance.
- NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_assertion wasGeneratedBy ECO_0000203 NP731694.RAgDbdEu64E-jc8Gq-dYphrAq7OkXsq72RJeYfg6qTi5w130_provenance.