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- source_evidence_literature type ECO_0000212 NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_assertion description "[Using whole-genome sequencing in a cohort of 11�families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_assertion evidence source_evidence_literature NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_assertion SIO_000772 25132448 NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_assertion wasDerivedFrom befree-2016 NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_assertion wasGeneratedBy ECO_0000203 NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1211571.RAI9JLkMrH8a3zG6EGiyv76gsRdVY0vGLBogGQF7wrSGc130_provenance.