Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_assertion description "[We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_assertion evidence source_evidence_literature NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_assertion SIO_000772 21948486 NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_assertion wasDerivedFrom befree-2016 NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_assertion wasGeneratedBy ECO_0000203 NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.
- befree-2016 importedOn "2016-02-19" NP926505.RAQ7KpT2TPS83bnuxC22tt7h43JQv0F4m4vxdcQVaxEcE130_provenance.