Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1245730.RAkN6F5O8Z-NzsodIPDDdv7p86_wDpugLsJgC-4rHRyys#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion SIO_000772 16845398 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Gouti�res syndrome at the AGS1 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.