{"id":"W2054982708","doi":"10.1038/sj.ejhg.5200656","title":"Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world","year":2001,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":52,"is_retracted":false,"has_abstract":false,"ca_institutions":"Vancouver Hospital and Health Sciences Centre","funders":"Turun Yliopistosäätiö; Tays; Turun Yliopisto","keywords":"Spinal and bulbar muscular atrophy; Founder effect; Haplotype; Trinucleotide repeat expansion; Genetics; Biology; Androgen receptor; Atrophy; Age of onset; Disease; Allele; Medicine; Gene; Pathology; Prostate cancer","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008232865,0.0008086933,0.001192822,0.005314715,0.001219052,0.0009750968,0.0005637777,0.001200683,0.006197575],"category_scores_gemma":[0.002454968,0.0002510367,0.0008652944,0.003344309,0.001004535,0.0005342761,0.0006794591,0.00063701,0.0005402036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000343926,"about_ca_system_score_gemma":0.0002740267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005593346,"about_ca_topic_score_gemma":0.0141814,"domain_scores_codex":[0.9987931,0.0001919767,0.000204067,0.0005125728,0.0001951484,0.0001030421],"domain_scores_gemma":[0.9977924,0.0008071638,0.0006440176,0.0001484524,0.0003062725,0.0003017318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005700213,0.0001775531,0.7621207,0.0007672842,0.00535321,0.02821254,0.002726908,0.0006598347,0.07224948,0.001485339,0.003219276,0.1173278],"study_design_scores_gemma":[0.0001517224,0.0004104585,0.961252,0.0002589565,0.003112994,0.0227429,0.0008752669,0.0001354215,0.002692596,0.0009291564,0.007383787,0.00005481196],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9715618,0.02148975,0.0008511373,0.0005456801,0.0001537141,0.0000250674,0.001185338,0.00004824297,0.004139246],"genre_scores_gemma":[0.9920936,0.004822315,0.0007918281,0.0002145697,0.0001439289,0.0000117184,0.0004300415,0.00002579881,0.00146626],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006197575,"threshold_uncertainty_score":0.02073294,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03224744235841934,"score_gpt":0.2717639191966522,"score_spread":0.2395164768382329,"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."}}