Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion> ?p ?o ?g. }
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- NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion type Assertion NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_head.
- NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion description "[A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_provenance.
- NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion evidence source_evidence_literature NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_provenance.
- NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion SIO_000772 23000069 NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_provenance.
- NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion wasDerivedFrom befree-20150227 NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_provenance.
- NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_assertion wasGeneratedBy ECO_0000203 NP241613.RAkedOElIZ0HyiGZQrvDUPMGomRD-8EZym3e3Bw30Wyi8130_provenance.