Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion> ?p ?o ?g. }
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- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion type Assertion NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_head.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_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." NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion evidence source_evidence_literature NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion SIO_000772 19384555 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion wasDerivedFrom befree-20140225 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion wasGeneratedBy ECO_0000203 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.