Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion> ?p ?o ?g. }
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- NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion type Assertion NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_head.
- NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion wasGeneratedBy ECO_0000203 NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_provenance.
- NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion wasDerivedFrom befree-20140225 NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_provenance.
- NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion SIO_000772 16896309 NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_provenance.
- NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion evidence source_evidence_literature NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_provenance.
- NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_assertion description "[We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP829923.RAUgUecc2FAm2d8TGEw-hZlirCI_SbLjEjRqRGdMcho74130_provenance.