Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_assertion description "[We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited knowledge about the phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_assertion evidence source_evidence_literature NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_assertion SIO_000772 19384555 NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_assertion wasDerivedFrom befree-20140225 NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_assertion wasGeneratedBy ECO_0000203 NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.
- befree-20140225 importedOn "2014-02-25" NP819519.RAGfDw_S8HrfhVpQ5Z_eZKkJD_H-x7jEWcJ9aRy_H3Z8E130_provenance.