{"id":"W1991579714","doi":"10.1016/j.nmd.2008.04.001","title":"Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster","year":2008,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hôpital de l'Enfant-Jésus; Université Laval; Cégep de Jonquière; Centre Hospitalier Universitaire Sainte-Justine; Hôpital Notre-Dame; Centre Hospitalier de l’Université de Montréal","funders":"Fonds de Recherche du Québec - Santé","keywords":"Genetics; Haplotype; Locus (genetics); Biology; Mutation; Genetic heterogeneity; Founder effect; Cluster (spacecraft); Gene; Phenotype; Allele","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001472249,0.0004012153,0.0003506488,0.0003000581,0.0008586401,0.00006475476,0.0006387229,0.0001863388,0.0002790924],"category_scores_gemma":[0.003197728,0.000400328,0.0003954734,0.0007838788,0.0005654223,0.0003720619,0.0000967234,0.0003962576,0.0002425079],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004728025,"about_ca_system_score_gemma":0.0002421337,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003373389,"about_ca_topic_score_gemma":0.00275488,"domain_scores_codex":[0.9965041,0.000445694,0.0004252382,0.001148273,0.0005388949,0.0009378265],"domain_scores_gemma":[0.9976215,0.001087774,0.0001436114,0.0007324178,0.00006667805,0.0003480623],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002683618,0.008926553,0.07855754,0.001056556,0.0004487473,0.004228013,0.01286115,0.08771287,0.2916212,0.02759977,0.4574394,0.02686461],"study_design_scores_gemma":[0.01141042,0.002713916,0.2292866,0.00005598426,0.0002277009,0.0005272694,0.0008160984,0.02135314,0.005515526,0.05981288,0.664933,0.003347469],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9661359,0.0001175573,0.005210892,0.01752139,0.0009459303,0.002072289,0.0001802182,0.0004899705,0.007325826],"genre_scores_gemma":[0.9826261,0.000147296,0.0004810785,0.01486378,0.00008769915,0.0003847831,0.00002440317,0.0001097787,0.00127504],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2861057,"threshold_uncertainty_score":0.9998448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04223080523847606,"score_gpt":0.2572208971525123,"score_spread":0.2149900919140362,"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."}}