{"id":"W1553897441","doi":"10.1111/j.0009-9163.2004.00223.x","title":"The Δ&gt;15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction‐based diagnostic assay and prevalence in Quebec","year":2004,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Centre Hospitalier Universitaire Sainte-Justine","funders":"Health Canada","keywords":"Familial hypercholesterolemia; Alu element; Genetics; Exon; Biology; Population; LDL receptor; Polymerase chain reaction; Breakpoint; Founder effect; Allele; Mutation; Gene; Molecular biology; Human genome; Medicine; Lipoprotein; Genome; Cholesterol; Haplotype; Endocrinology","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":[0.0007329129,0.000327633,0.0002320618,0.00210687,0.0007796959,0.0005070841,0.0006182109,0.0005060982,0.00191886],"category_scores_gemma":[0.001957262,0.0001794513,0.0001764022,0.001023524,0.0004635347,0.00009869362,0.0001873042,0.0002591281,0.0002180272],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005076943,"about_ca_system_score_gemma":0.002485572,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.890666,"about_ca_topic_score_gemma":0.911164,"domain_scores_codex":[0.999159,0.00009472619,0.00003386342,0.0001930088,0.0004155558,0.0001038924],"domain_scores_gemma":[0.9992187,0.0001441919,0.000133171,0.00002490494,0.0003603783,0.0001186994],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001519481,0.00005704797,0.9509643,0.00006469346,0.00007525379,0.001056131,0.0006025581,0.0002802972,0.02056664,0.0003410054,0.002162721,0.02367739],"study_design_scores_gemma":[0.00001848418,0.00007753242,0.989485,0.00003808559,0.00003904338,0.002577718,0.0002168871,0.001347432,0.002408966,0.00003653055,0.00373795,0.00001652069],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887323,0.001811375,0.00255861,0.0002859284,0.00002236495,0.00009718079,0.002073268,0.0001036131,0.004315239],"genre_scores_gemma":[0.9950209,0.0004591789,0.001968323,0.0001143367,0.000006346763,0.00002704322,0.0008344788,0.000008800706,0.001560643],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.109334,"threshold_uncertainty_score":0.2199557,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02581818399993771,"score_gpt":0.3077423088906813,"score_spread":0.2819241248907436,"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."}}