Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1349452.RAlcpmRCHptgR0hEQg2EvH2AXNi4ulHwmcg-z2_bN9jYE#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25132448 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.