{"id":"W2000256578","doi":"10.1186/1471-2350-13-72","title":"A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population","year":2012,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre; Cégep de Chicoutimi; Université de Sherbrooke","funders":"Canadian Institutes of Health Research; National Institutes of Health; Université de Sherbrooke; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; McGill University","keywords":"Biology; Genetics; Founder effect; Zellweger syndrome; Mutation; Population; Exon; Incidence (geometry); Peroxisomal disorder; Gene; Haplotype; Peroxisome; Allele; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003638524,0.0006517529,0.0003820536,0.00261458,0.002662901,0.0005652981,0.0008244817,0.0006135833,0.00618324],"category_scores_gemma":[0.001199221,0.000192487,0.0005174043,0.002292545,0.0006361715,0.0001555291,0.0004111383,0.0004745527,0.0002820577],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005533533,"about_ca_system_score_gemma":0.006084479,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.933404,"about_ca_topic_score_gemma":0.9143475,"domain_scores_codex":[0.9995905,0.00002749044,0.0000205747,0.00009739962,0.0001433659,0.0001206567],"domain_scores_gemma":[0.9993683,0.00006757189,0.0001243167,0.00002492687,0.000271532,0.0001434329],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002220179,0.00004028632,0.9671869,0.00006603872,0.0001188313,0.005555498,0.001090992,0.0003094141,0.004319674,0.0004015617,0.002064636,0.01862414],"study_design_scores_gemma":[0.00002408648,0.00008321307,0.9805796,0.00005537537,0.0001280183,0.01264093,0.001305008,0.0007580319,0.000524842,0.0001207887,0.003734473,0.00004573052],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941739,0.0009530506,0.0003518476,0.0003164426,0.00002232491,0.00002035073,0.0009832151,0.00004450449,0.003134345],"genre_scores_gemma":[0.9981157,0.0004078446,0.000342358,0.00006280086,0.000008586075,0.000004295247,0.0003247424,0.000007161896,0.000726461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06659603,"threshold_uncertainty_score":0.1339764,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01937086616183116,"score_gpt":0.2876466757186907,"score_spread":0.2682758095568596,"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."}}