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- source_evidence_literature type ECO_0000212 NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_assertion description "[Genetic testing of the 2 sisters and their mother (who also had multiple facial lentigines but did not have Cushing syndrome) revealed a novel mutation in the PRKAR1A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_assertion evidence source_evidence_literature NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_assertion SIO_000772 19833579 NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_assertion wasDerivedFrom befree-2016 NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_assertion wasGeneratedBy ECO_0000203 NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.
- befree-2016 importedOn "2016-02-19" NP769567.RATlY8Dz9rPl7buZpmYNz6ftDFB6H-npzn-rF71s94rEU130_provenance.