{"id":"W2100365948","doi":"10.1002/mds.25994","title":"Phenotypic variability of PINK1 expression: 12 Years' clinical follow‐up of two Italian families","year":2014,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Phenotype; PINK1; Expression (computer science); Genetics; Medicine; Biology; Pediatrics; Internal medicine; Parkin; Parkinson's disease; Gene; Computer science; Disease","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004714018,0.0001648622,0.0004679486,0.00006599884,0.00003217992,0.000004311652,0.0001141812,0.00007389539,0.0003597976],"category_scores_gemma":[0.0001603356,0.0001394691,0.0002615741,0.00009649099,0.0001199764,0.00004860881,0.00007514054,0.00008319173,0.00001445142],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003143474,"about_ca_system_score_gemma":0.00005622589,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000171622,"about_ca_topic_score_gemma":0.00005347656,"domain_scores_codex":[0.998436,0.0001393805,0.0005170198,0.0003359282,0.0003577148,0.0002139397],"domain_scores_gemma":[0.9989702,0.000103858,0.0001863411,0.0005405027,0.00004980465,0.0001492806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006942125,0.003009559,0.938797,0.0002311275,0.0003734124,0.000003270125,0.0003652471,0.00001314103,0.003191056,0.003805718,0.001609521,0.04790672],"study_design_scores_gemma":[0.01363605,0.001171167,0.9048124,0.0002033183,0.0003777078,8.791269e-8,0.0004438501,0.0003149681,0.005100102,0.06685105,0.00685345,0.0002358699],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901178,0.0001007619,0.002539058,0.0001830935,0.0003750605,0.000461562,0.000035262,0.00003282939,0.006154562],"genre_scores_gemma":[0.997453,0.00007953394,0.001388331,0.0005679951,0.00004533875,0.00003333243,0.00003953123,0.00001926901,0.0003737058],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06304533,"threshold_uncertainty_score":0.5687387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01978289824714737,"score_gpt":0.3022239878141458,"score_spread":0.2824410895669985,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}