{"id":"W2085562177","doi":"10.1002/ana.22331","title":"Infantile muscular dystrophy in Canadian aboriginals is an αB‐crystallinopathy","year":2010,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Western University; Alberta Children's Hospital; University of Manitoba","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Missense mutation; Exon; Genetics; Mutation; Muscular dystrophy; Congenital muscular dystrophy; Phenotype; Allele; Biology; Myopathy; Gene; Pathology; Medicine; Molecular biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001948936,0.0001436046,0.0001975975,0.0001450053,0.00004347572,0.000005255972,0.0002817221,0.0003301517,0.0001274854],"category_scores_gemma":[0.00007139592,0.0001506766,0.00008035384,0.0001050322,0.0001821995,0.000007387399,0.0000386861,0.0002469929,0.000009764543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":7.522151e-7,"about_ca_system_score_gemma":0.0001925314,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.0254015,"about_ca_topic_score_gemma":0.1238543,"domain_scores_codex":[0.9987752,0.00009576914,0.0002401503,0.0003785564,0.00005962273,0.0004507244],"domain_scores_gemma":[0.9991462,0.00001059646,0.0000795979,0.0004691474,0.00009078032,0.0002036614],"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":[0.0003397259,0.000148786,0.05568068,0.0000153904,0.00002375311,0.00003984921,0.0001195656,0.00009010341,0.9401947,0.0006991223,0.001624595,0.001023764],"study_design_scores_gemma":[0.001002126,0.003082444,0.3867792,0.00000409465,0.0000127933,0.0000436437,0.00002570805,0.0001875707,0.1271398,0.002301191,0.4789564,0.0004651581],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965038,0.0001216319,0.000005653402,0.001627602,0.0001972056,0.0001105677,0.00004783118,0.000005664189,0.001380059],"genre_scores_gemma":[0.9915289,0.0001683345,0.00004306664,0.008021546,0.0001074166,0.00001259279,0.00007861191,0.00001654795,0.00002296651],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8130549,"threshold_uncertainty_score":0.9810885,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01424627178570381,"score_gpt":0.2905798604421937,"score_spread":0.2763335886564899,"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."}}