{"id":"W2122657970","doi":"10.1136/jmg.2004.021501","title":"Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8","year":2004,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Genetics; Locus (genetics); Genotyping; Disease gene identification; Genetic linkage; Biology; Pedigree chart; Candidate gene; Genotype; Gene mapping; Allele; Chromosome; Gene; Mutation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001171768,0.0004620685,0.0002107502,0.0008011757,0.0002402037,0.0001864148,0.0002821166,0.0003142072,0.001907559],"category_scores_gemma":[0.0005328887,0.0001510922,0.0002251171,0.0003629008,0.0002464461,0.00006137941,0.0002231122,0.0002002249,0.0003735128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001874359,"about_ca_system_score_gemma":0.0001648377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001096479,"about_ca_topic_score_gemma":0.0008249706,"domain_scores_codex":[0.9998814,0.00002346013,0.000008137659,0.00003966945,0.00003086692,0.00001648128],"domain_scores_gemma":[0.9995964,0.0001493318,0.0001562385,0.00001610928,0.00002676205,0.00005518089],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002273455,0.0002108053,0.22324,0.0002972884,0.0003008487,0.0206395,0.0007912582,0.0005780134,0.7034182,0.0007727953,0.001080093,0.04639782],"study_design_scores_gemma":[0.0001482915,0.0006180172,0.9332295,0.0001024991,0.000211548,0.0253755,0.0002231024,0.001021474,0.03227953,0.0002581562,0.006505191,0.00002719574],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981363,0.000558546,0.0006439729,0.00004799827,0.000007120623,0.00001174986,0.0001478135,0.00002277841,0.0004237301],"genre_scores_gemma":[0.9974113,0.0002677374,0.001323182,0.00002837808,0.0000133045,0.00001422085,0.0003873676,0.000005236542,0.0005493146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001907559,"threshold_uncertainty_score":0.006381392,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03657796491212326,"score_gpt":0.3317449822107515,"score_spread":0.2951670172986283,"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."}}