Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_assertion wasGeneratedBy ECO_0000203 NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_assertion wasDerivedFrom befree-20140225 NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_assertion SIO_000772 20967465 NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_assertion evidence source_evidence_literature NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_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." NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP929139.RAuOqMwPtTu0WbnMh_Fvtac53EnQrYxofImyVWchFcON0130_provenance.