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- source_evidence_literature type ECO_0000212 NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_assertion description "[The screening failed to identify non-synonymous variant in IL1RAPL2, whereas a rare missense (R102Q) in NCS-1/FREQ was identified in one autistic patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_assertion evidence source_evidence_literature NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_assertion SIO_000772 18801879 NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_assertion wasDerivedFrom befree-20150227 NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_assertion wasGeneratedBy ECO_0000203 NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP872383.RAVBqwM4DFvb1NB9WGTyzA3QIXx6HMDkaBIFfqL22v9YE130_provenance.