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- source_evidence_literature type ECO_0000212 NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_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." NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_assertion evidence source_evidence_literature NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_assertion SIO_000772 24675673 NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_assertion wasDerivedFrom befree-2016 NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_assertion wasGeneratedBy ECO_0000203 NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1168002.RA3yWv1wgjwbHYD_bobXfE_P0c-KZ9981XC18wVIwKsy8130_provenance.