{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001769439,0.0005332283,0.0002138382,0.0006626908,0.002328624,0.0004031684,0.0003735235,0.0003303656,0.00228369],"category_scores_gemma":[0.0005709017,0.0001571284,0.0002057552,0.0007202269,0.0006338807,0.0000952768,0.000401109,0.0003448363,0.0002659038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002716631,"about_ca_system_score_gemma":0.003301826,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.744246,"about_ca_topic_score_gemma":0.7929606,"domain_scores_codex":[0.9997802,0.000009556061,0.000007695298,0.00002949814,0.0001086516,0.00006428403],"domain_scores_gemma":[0.9998307,0.00001018567,0.00003914026,0.00000582532,0.00007685966,0.00003724283],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005944726,0.0001475517,0.777633,0.0003542049,0.0001281803,0.05153122,0.008586921,0.0003916459,0.09300925,0.0008480299,0.00498159,0.06179393],"study_design_scores_gemma":[0.00001953889,0.0001660371,0.9538355,0.00007724063,0.00008414341,0.0331722,0.002290708,0.0003189847,0.002474652,0.00009539955,0.007437781,0.00002785775],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950622,0.0007872632,0.0001905728,0.0002121542,0.00001677403,0.00002223691,0.0001986937,0.00001892225,0.003491248],"genre_scores_gemma":[0.996795,0.0007074723,0.0004877629,0.00008309048,0.00001182053,0.000008066368,0.0001816101,0.000006918434,0.001718344],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.255754,"threshold_uncertainty_score":0.5145203,"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."}}