Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion> ?p ?o ?g. }
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- NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion type Assertion NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_head.
- NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion description "[Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to ?-thalassemia intermedia, when in trans to a single ?-globin gene deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_provenance.
- NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion evidence source_evidence_literature NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_provenance.
- NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion SIO_000772 25476779 NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_provenance.
- NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion wasDerivedFrom befree-2016 NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_provenance.
- NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_assertion wasGeneratedBy ECO_0000203 NP1244975.RAveBG5w-1rJA6RrlH8xLjh3e3ZJLkC1l-2SzPZtOFREo130_provenance.