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- source_evidence_literature type ECO_0000212 NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_assertion description "[ptc1-Q688X has been identified in patients with both BCC and nevoid basal cell carcinoma syndrome, an inheritable disorder causing a predisposition to cancer susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_assertion evidence source_evidence_literature NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_assertion SIO_000772 15592520 NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_assertion wasDerivedFrom befree-2016 NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_assertion wasGeneratedBy ECO_0000203 NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.
- befree-2016 importedOn "2016-02-19" NP472387.RARf_zKxyupzjowHZTUvwLl_CxuR8BUBNPY2MBlAqP188130_provenance.