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- source_evidence_literature type ECO_0000212 NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_assertion description "[The present study shows that a truncating mutation in the adenomatosis polyposis coli gene at the beginning of the region frequently associated with desmoids induced a familial adenomatous polyposis phenotype featured by a high penetrance of the desmoid trait, with severe disease in several affected members of both sexes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_assertion evidence source_evidence_literature NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_assertion SIO_000772 11711730 NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_assertion wasDerivedFrom befree-2016 NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_assertion wasGeneratedBy ECO_0000203 NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.
- befree-2016 importedOn "2016-02-19" NP336695.RAMeqa7JbaM53S9ZZrZ01fuV4HcA1vPU0X_92x3KgFqe8130_provenance.