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- source_evidence_literature type ECO_0000212 NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_assertion description "[We report the first germline missense mutation in BHD c.1978A>G (K508R) in a patient who presented with bilateral multifocal renal oncocytomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_assertion evidence source_evidence_literature NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_assertion SIO_000772 18234728 NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_assertion wasDerivedFrom befree-2016 NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_assertion wasGeneratedBy ECO_0000203 NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.
- befree-2016 importedOn "2016-02-19" NP652666.RATwo5-FByIXlxBXA_DizA2yP15A2nhi8sJWIQ9UYoRGU130_provenance.