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- source_evidence_literature type ECO_0000212 NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_assertion description "[In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_assertion evidence source_evidence_literature NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_assertion SIO_000772 20163776 NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_assertion wasDerivedFrom befree-2016 NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_assertion wasGeneratedBy ECO_0000203 NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.
- befree-2016 importedOn "2016-02-19" NP794380.RAi-H2OxZvu6fLTggVIyJWLYyRt3eYHq_yrvS9b-y5HyU130_provenance.