{"id":"W2103271845","doi":"10.1111/j.1399-0004.2010.01539.x","title":"Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Chicoutimi","funders":"Fundação para a Ciência e a Tecnologia; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior","keywords":"Haplotype; Genetics; Mucolipidosis; Founder effect; Mutation; Biology; Genotype; Molecular biology; Gene; Enzyme; Biochemistry","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":[0.0001480091,0.00008697979,0.000360679,0.0000544287,0.00007478117,0.000004278873,0.00009510994,0.0002048285,0.0001029053],"category_scores_gemma":[0.0003333624,0.00007728561,0.00006914254,0.000117955,0.0002303279,0.00002072564,0.0004344888,0.0003380054,0.000004542312],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001147573,"about_ca_system_score_gemma":0.00006121898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007691548,"about_ca_topic_score_gemma":0.0006349909,"domain_scores_codex":[0.9989452,0.00007286948,0.0003876144,0.0002076711,0.0002645266,0.0001221174],"domain_scores_gemma":[0.9989334,0.0002570724,0.0001269772,0.0003167758,0.0002180302,0.000147723],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002080852,0.0004114212,0.9776848,0.00005673032,0.00005134336,0.000006980909,0.0002780499,0.000001649575,0.01201338,0.00002415619,0.00005549672,0.009207923],"study_design_scores_gemma":[0.001299799,0.0007577589,0.9903396,0.00006275751,0.0001294309,0.000002061069,0.00005562314,0.0005544373,0.005626164,0.0002347625,0.0008623941,0.00007524987],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988434,0.000313147,0.00009210803,0.0001156923,0.0002764324,0.0002055922,0.00001915313,0.00001131031,0.0001232093],"genre_scores_gemma":[0.9983132,0.0004898135,0.0009064674,0.00008790183,0.0001362762,8.16e-7,0.00002162706,0.00001185802,0.00003203281],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01265477,"threshold_uncertainty_score":0.3151616,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.086383511989505,"score_gpt":0.3806716908544052,"score_spread":0.2942881788649002,"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."}}