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- source_evidence_literature type ECO_0000212 NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_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." NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_assertion evidence source_evidence_literature NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_assertion SIO_000772 18234728 NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_assertion wasDerivedFrom befree-20140225 NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_assertion wasGeneratedBy ECO_0000203 NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.
- befree-20140225 importedOn "2014-02-25" NP795575.RA2NwNONa00vhlH2foH6chkdylpB6TfW52o6GqX79u0ew130_provenance.