{"id":"W2079456387","doi":"10.1016/j.ajhg.2015.01.005","title":"Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":138,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Alzheimer’s Research UK; University of Sheffield; Parkinson's UK; University College London; Alzheimer Society; Alzheimer’s Society; Wellcome Trust; University of Dundee","keywords":"Ataxia; Genetics; Biology; Neuroscience","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002481915,0.00009933755,0.0001852499,0.00006468641,0.00004886834,0.00001621836,0.0002234757,0.00003247744,0.00001475771],"category_scores_gemma":[0.0000826339,0.00006529391,0.0000393876,0.000179593,0.0002658696,0.000003076924,0.00003768651,0.0001512391,0.000007428245],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001773011,"about_ca_system_score_gemma":0.0001686273,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001538193,"about_ca_topic_score_gemma":0.00009857607,"domain_scores_codex":[0.9991333,0.0002157674,0.0002570035,0.000112171,0.0001418091,0.0001399454],"domain_scores_gemma":[0.998972,0.00001787539,0.0003937147,0.0002336406,0.0002800435,0.0001027027],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002582134,0.00023049,0.04472383,0.000008326304,0.0002922021,0.000188531,0.002444427,0.00471316,0.9271607,0.0001745015,0.012074,0.005407648],"study_design_scores_gemma":[0.01774362,0.1170817,0.1441131,0.0002605048,0.00113744,0.008968518,0.02398336,0.0003038954,0.3720049,0.005084706,0.3064936,0.002824643],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978224,0.0004093422,0.00102652,0.0001919643,0.0002067336,0.00007590449,0.000003427434,0.000002284183,0.0002614336],"genre_scores_gemma":[0.9959236,0.00009640578,0.002849024,0.0003589356,0.0003922056,0.00000233315,0.00001055927,0.00001730576,0.0003496327],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5551559,"threshold_uncertainty_score":0.2662608,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02842910837085665,"score_gpt":0.3002574781123519,"score_spread":0.2718283697414953,"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."}}