{"id":"W2412454244","doi":"10.1017/s0317167100052550","title":"A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy","year":2001,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Hôpital de l'Enfant-Jésus; Montreal General Hospital; Université Laval","funders":"Medical Research Council; Institut de Réadaptation en Déficience Physique de Québec; Medical Research Council Canada","keywords":"Founder effect; Genetics; Haplotype; Mutation; Biology; Transmembrane domain; Single-strand conformation polymorphism; Gene; Medicine; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0002270239,0.001275709,0.0003368458,0.001350413,0.002388855,0.0004581749,0.000518495,0.0008627952,0.005770409],"category_scores_gemma":[0.0009714021,0.0002364393,0.0004327478,0.001165885,0.0007681451,0.0001419351,0.0005737547,0.0003315529,0.0002868625],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002901539,"about_ca_system_score_gemma":0.003449245,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5601679,"about_ca_topic_score_gemma":0.6242418,"domain_scores_codex":[0.9996409,0.0000396831,0.00001972545,0.00009267225,0.0001020664,0.0001047913],"domain_scores_gemma":[0.9996734,0.00007701675,0.00007525756,0.00001329167,0.00007047343,0.00009054674],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002020343,0.0002794226,0.6066313,0.000463927,0.0003476565,0.2420484,0.008192654,0.001207425,0.06439692,0.002718956,0.007270202,0.06442279],"study_design_scores_gemma":[0.0001867173,0.0003358801,0.6878281,0.0001272694,0.0004128357,0.286346,0.002221894,0.001140025,0.006493712,0.0004133019,0.01440157,0.00009264983],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951337,0.0009632245,0.0002750399,0.0002452263,0.00002215633,0.00002057646,0.0003594695,0.00003229161,0.002948292],"genre_scores_gemma":[0.9973247,0.0004714652,0.0005344299,0.000103069,0.00001666325,0.000008085654,0.0001949198,0.000009662341,0.001336973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4398321,"threshold_uncertainty_score":0.8848447,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04157538019755092,"score_gpt":0.2573797824896815,"score_spread":0.2158044022921306,"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."}}