{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003836072,0.001090092,0.0005532246,0.001241024,0.001392386,0.0005301294,0.0004294698,0.0007618894,0.001016994],"category_scores_gemma":[0.001755305,0.0003526709,0.0006218935,0.0006677379,0.0007091718,0.0003171022,0.0006667976,0.0005415881,0.0003108152],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009955101,"about_ca_system_score_gemma":0.0003226253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01286259,"about_ca_topic_score_gemma":0.007814946,"domain_scores_codex":[0.9996202,0.00006610381,0.00003144874,0.000135413,0.00005742925,0.00008934255],"domain_scores_gemma":[0.9992561,0.0001480934,0.0002001236,0.00006513074,0.0001183266,0.000212303],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007038534,0.0004234374,0.8638417,0.00004177543,0.0001384325,0.1015561,0.006581284,0.0003991404,0.009414994,0.0001133385,0.0006650449,0.01612088],"study_design_scores_gemma":[0.00003491877,0.0004290272,0.935149,0.00001751768,0.00008126278,0.06181781,0.0005485497,0.0002340012,0.0005658333,0.00005733917,0.001035572,0.00002917155],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990522,0.000109605,0.0001314713,0.0000358263,0.000004232139,0.00001174954,0.0001135162,0.000008201484,0.0005330407],"genre_scores_gemma":[0.9990197,0.00008356033,0.000151912,0.00003313299,0.00001035575,0.00001323566,0.0003178859,0.000008592771,0.0003615372],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01286259,"threshold_uncertainty_score":0.02557546,"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."}}