Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_assertion evidence source_evidence_literature NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_assertion SIO_000772 21073448 NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_assertion wasDerivedFrom befree-20150227 NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_assertion wasGeneratedBy ECO_0000203 NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP820387.RAgKcBGIY6qUin1vy_IH1sVcDhBjozTSKq_ycVcfOBsxQ130_provenance.