Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion> ?p ?o ?g. }
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- NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion type Assertion NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_head.
- NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion wasGeneratedBy ECO_0000203 NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_provenance.
- NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion wasDerivedFrom befree-20140225 NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_provenance.
- NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion SIO_000772 20967465 NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_provenance.
- NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion evidence source_evidence_literature NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_provenance.
- NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_assertion description "[Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital cataracts, microphthalmia, absent visually evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP556856.RAKBWgtdyM5gEBmGZZoac9a3BYKwbMWR8d-vK3rIkSwdo130_provenance.