{"id":"W2149281893","doi":"10.1186/s13023-014-0174-9","title":"Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1","year":2014,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Nautical Research Society","funders":"CHIST-ERA; Fondation Roger de Spoelberch; Centre National de la Recherche Scientifique; Université Paris Diderot; Agence Nationale de la Recherche; Fonds De La Recherche Scientifique - FNRS; Institut National de la Santé et de la Recherche Médicale; Université Pierre et Marie Curie; Strong; Stiftung VERUM","keywords":"Missense mutation; Exome sequencing; Biology; Mutation; Dystonia; Disease gene identification; Genetics; Cardiomyopathy; Atrophy; Nonsense mutation; Medicine; Internal medicine; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008974067,0.0001174233,0.0002014509,0.00005659319,0.00003861333,0.00002982512,0.00006511748,0.00008118264,0.00002404716],"category_scores_gemma":[0.00008829177,0.0001004959,0.00008833222,0.000052241,0.00003406448,0.0000107982,0.00002122024,0.00007030413,0.0000019615],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000142627,"about_ca_system_score_gemma":0.0000424477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001314291,"about_ca_topic_score_gemma":0.000008417863,"domain_scores_codex":[0.9992867,0.00009794693,0.0002122511,0.0001456827,0.00013437,0.0001230229],"domain_scores_gemma":[0.9995087,0.0000154977,0.0001526008,0.0001154924,0.00008668676,0.000120968],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004171191,0.0002775848,0.09298927,0.0002954802,0.0005494097,0.0008965319,0.000487122,0.0008493661,0.7640318,0.00006201414,0.07108483,0.06430546],"study_design_scores_gemma":[0.02227981,0.00837267,0.3945139,0.0004657531,0.001408771,0.007477997,0.001341563,0.0004956621,0.07188211,0.001353695,0.4881482,0.002259914],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954067,0.00393581,0.0002137987,0.00007428318,0.0001788819,0.0000680364,0.00003662429,0.000003514806,0.00008229608],"genre_scores_gemma":[0.9989711,0.0002505472,0.0001303037,0.0001605958,0.0003134724,0.00000114125,0.00006328258,0.00001626146,0.00009331528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6921496,"threshold_uncertainty_score":0.4098105,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002948435259276928,"score_gpt":0.1979262629827899,"score_spread":0.194977827723513,"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."}}