Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion> ?p ?o ?g. }
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- NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion type Assertion NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_head.
- NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion description "[We report the case of a 40-year-old woman with adenomatous colon polyps too numerous to count and who had a complex inversion spanning the entire exon 10 in APC (the gene encoding for adenomatous polyposis coli), causing exon skipping and resulting in a frameshift and premature protein truncation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_provenance.
- NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion evidence source_evidence_literature NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_provenance.
- NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion SIO_000772 24675673 NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_provenance.
- NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion wasDerivedFrom befree-2016 NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_provenance.
- NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_assertion wasGeneratedBy ECO_0000203 NP1167997.RA6BLwjdvnzzf_THjLuXW3D-h5tqYHc0n_RY66F9-AN5o130_provenance.