{"id":"W7055346295","doi":"","title":"De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity","year":2024,"lang":"en","type":"article","venue":"UCL Discovery (University College London)","topic":"Magnetic Field Sensors Techniques","field":"Engineering","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Medical Research Council; China Scholarship Council; National Institute for Health and Care Research; Department of Health and Social Care; Cancer Research UK; Wellcome Trust","keywords":"Missense mutation; Proband; Ataxia; Spinocerebellar ataxia; Cerebellar ataxia; Spasticity; Amyotrophic lateral sclerosis; Hereditary spastic paraplegia","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001512537,0.0004328225,0.0002447622,0.0007470741,0.0003868782,0.0003595582,0.0002193898,0.0004053595,0.001728019],"category_scores_gemma":[0.0007393422,0.000203682,0.0002144058,0.00039154,0.0003441262,0.000130386,0.0002905642,0.00021436,0.000311366],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003882334,"about_ca_system_score_gemma":0.0001839357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001402347,"about_ca_topic_score_gemma":0.002405601,"domain_scores_codex":[0.9997697,0.00002609933,0.00002140002,0.0000897842,0.00005863256,0.00003434418],"domain_scores_gemma":[0.9997408,0.00007232341,0.0000887225,0.0000252686,0.00001980112,0.00005319947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008161332,0.0001639375,0.5924657,0.000177974,0.0002326584,0.04904927,0.0008041437,0.0006173968,0.2968791,0.0005448394,0.0004877588,0.05776103],"study_design_scores_gemma":[0.00004171976,0.0005552311,0.7174321,0.00002563616,0.0002207022,0.2260862,0.0003301876,0.001740414,0.04963976,0.0003124545,0.003598177,0.00001745316],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982426,0.000446884,0.0006082623,0.00003741332,0.000002749093,0.000004707233,0.00008083374,0.00002413048,0.0005524321],"genre_scores_gemma":[0.9989175,0.0001606569,0.0004514923,0.0000153853,0.000005670921,0.000002538245,0.00009415432,0.000003933178,0.0003486971],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001728019,"threshold_uncertainty_score":0.005780816,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006816647842262734,"score_gpt":0.1832694030496046,"score_spread":0.1764527552073419,"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."}}