Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_assertion description "[These findings provide definitive evidence for the role of PURA in causing a variable syndrome of neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements and epilepsy in humans, and help clarify the role of PURA in the previously described 5q31.3 microdeletion phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_assertion evidence source_evidence_literature NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_assertion SIO_000772 25342064 NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_assertion wasDerivedFrom befree-2016 NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_assertion wasGeneratedBy ECO_0000203 NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.
- befree-2016 importedOn "2016-02-19" NP1232233.RAL6qyYLB8EsT89Lu5pkg0OVvVIUh98dV3H4_EeNWg-Lw130_provenance.