{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001666095,0.00007625139,0.0001272878,0.00009616965,0.0001613701,0.00003382709,0.0001338983,0.0003431806,0.0001300349],"category_scores_gemma":[0.001094212,0.00007136159,0.00006407361,0.0001146767,0.00004417773,0.000008090078,0.000009183617,0.0002281353,0.00003856433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002228488,"about_ca_system_score_gemma":0.001709565,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001323567,"about_ca_topic_score_gemma":0.02680576,"domain_scores_codex":[0.9983979,0.0002487914,0.0004727347,0.0001253034,0.0005136728,0.0002415778],"domain_scores_gemma":[0.998586,0.00004156769,0.0003600798,0.00009273604,0.000385774,0.0005338292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001479514,0.0007197731,0.5786369,0.0002975181,0.001022644,0.0002686611,0.004293183,0.0006043783,0.04154744,0.01158048,0.1006674,0.2602136],"study_design_scores_gemma":[0.008183709,0.001986147,0.7600688,0.0003369332,0.0003095155,0.00252383,0.003396096,0.005122051,0.01685208,0.003496217,0.1962937,0.001430882],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941027,0.0002192523,0.001514943,0.001736187,0.0005616648,0.0001025376,0.00003635622,0.000004360503,0.001721983],"genre_scores_gemma":[0.9982842,0.00004147382,0.00002671285,0.0008674038,0.0004113621,0.000003117443,0.00006188918,0.000009144988,0.0002946653],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2587827,"threshold_uncertainty_score":0.9909525,"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."}}