Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion> ?p ?o ?g. }
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- NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion type Assertion NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_head.
- NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion wasGeneratedBy ECO_0000203 NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_provenance.
- NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion wasDerivedFrom befree-2016 NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_provenance.
- NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion SIO_000772 25193871 NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_provenance.
- NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion evidence source_evidence_literature NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_provenance.
- NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_assertion description "[Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1217467.RAO0sLMIopVSTQTr00FtvGseUJx-qGjG5ei0Rj7ppvj0M130_provenance.