{"id":"W2117568244","doi":"10.1503/cmaj.140657","title":"Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation","year":2014,"lang":"en","type":"article","venue":"Canadian Medical Association Journal","topic":"Digestive system and related health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Western University","funders":"Canadian Institutes of Health Research","keywords":"Founder effect; Proband; Mutation; Population; Malabsorption; Medicine; Genetics; Allele frequency; Frameshift mutation; Failure to thrive; Allele; Internal medicine; Biology; Gene; Haplotype; Environmental health","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":[0.0003302991,0.0007735286,0.0005039114,0.001602408,0.001214474,0.0005227039,0.0008446472,0.0009331711,0.003020625],"category_scores_gemma":[0.001597877,0.0002478345,0.0004702164,0.001016677,0.0005588846,0.0001674419,0.0004656052,0.0004811087,0.0002572003],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006738032,"about_ca_system_score_gemma":0.0005858573,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03690425,"about_ca_topic_score_gemma":0.03774445,"domain_scores_codex":[0.9994889,0.00004332265,0.00005549883,0.0001963332,0.0001463772,0.00006935627],"domain_scores_gemma":[0.9991873,0.0002239748,0.000209855,0.00005229575,0.0001469776,0.0001795303],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009067644,0.0004218964,0.7506986,0.0001925053,0.0003082428,0.09423725,0.005646386,0.0003433243,0.1283885,0.0006348185,0.001030666,0.01719106],"study_design_scores_gemma":[0.00009079099,0.0009457039,0.8210079,0.0001192565,0.0005247786,0.1460079,0.001564338,0.003444256,0.02185845,0.0002315446,0.00412241,0.00008254687],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982927,0.0001480333,0.0006537354,0.0000591326,0.00001456079,0.00003418592,0.0001864844,0.00002170329,0.0005895119],"genre_scores_gemma":[0.9987494,0.0000696974,0.000679964,0.0000387913,0.0000084373,0.0000109756,0.0001297462,0.00001093449,0.0003020045],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9630958,"threshold_uncertainty_score":0.07337886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004684260191743449,"score_gpt":0.240754724215924,"score_spread":0.2360704640241805,"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."}}