Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP836310.RAfNEpXrCfEtT1xZBpGpKZT4QatKrVxRTdoi3kNE0LwbU#assertion> ?p ?o ?g. }
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- assertion description "[Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25131834 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.