{"id":"W2418610951","doi":"10.1017/s0317167100054135","title":"Founder Mutation for a-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster","year":2011,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Hôpital de l'Enfant-Jésus; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research; Muscular Dystrophy Canada; Muscular Dystrophy Association","keywords":"Founder effect; Genetics; Missense mutation; Population; Locus (genetics); Candidate gene; Medicine; Biology; Pediatrics; Mutation; Haplotype; Gene; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0001705157,0.0006409908,0.0003502958,0.001228553,0.002667874,0.0004427173,0.0007007562,0.0006037891,0.004573869],"category_scores_gemma":[0.0006518215,0.0001568218,0.0003080114,0.001078677,0.0005009288,0.0001228873,0.000738795,0.0003433164,0.0004673822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001713743,"about_ca_system_score_gemma":0.001282526,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2096022,"about_ca_topic_score_gemma":0.2937387,"domain_scores_codex":[0.9997726,0.00001562476,0.0000211432,0.00007914359,0.00005124837,0.0000603363],"domain_scores_gemma":[0.9996722,0.00003118468,0.00006695185,0.00002111551,0.00008814614,0.0001203734],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002939383,0.0001090765,0.9319438,0.00005187255,0.0000843607,0.04730312,0.003129072,0.00007971352,0.008527942,0.0001355598,0.001137886,0.00720368],"study_design_scores_gemma":[0.00003220489,0.000154714,0.9607777,0.00005023723,0.00009881451,0.03251828,0.002222384,0.0001589194,0.0007267017,0.00004071533,0.003201859,0.00001738754],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984375,0.0001494584,0.00005305402,0.00006336559,0.000008508393,0.00002002695,0.0002192961,0.000007063912,0.001041785],"genre_scores_gemma":[0.9981461,0.0001059055,0.0002181207,0.0001061225,0.00001971952,0.00001110631,0.0003635094,0.000006029305,0.001023411],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7903978,"threshold_uncertainty_score":0.4167644,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03860094538490609,"score_gpt":0.272590614151474,"score_spread":0.2339896687665679,"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."}}