Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion description "[Together with previously reported cases, patients with DYRK1A mutations share many clinical features and may have a recognizable phenotype that includes, by decreasing order of frequency: developmental delay or ID with behaviors suggesting autism spectrum disorder, microcephaly, epileptic seizures, facial dysmorphism including ear anomalies (large ears, hypoplastic lobes), thin lips, short philtrum and frontal bossing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion evidence source_evidence_literature NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion SIO_000772 25641759 NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion wasDerivedFrom befree-2016 NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion wasGeneratedBy ECO_0000203 NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_provenance.