Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion> ?p ?o ?g. }
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- NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_assertion type Assertion NP1260151.RAC6mQXib-ibwWtlLOhSvvJZgFNwM1v93ckGnmuhqaxJQ130_head.
- 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.