Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_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." NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_assertion evidence source_evidence_literature NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_assertion SIO_000772 21073448 NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_assertion wasDerivedFrom befree-2016 NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_assertion wasGeneratedBy ECO_0000203 NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.
- befree-2016 importedOn "2016-02-19" NP852172.RAuWRmg1FXz4Wd3_nWf-1gLQ0rhHCgvJ1CPvmYe2h2O0c130_provenance.