{"id":"W1865013784","doi":"10.1111/cge.12610","title":"Mutations in <i><scp>SLC6A17</scp></i> cause autosomal‐recessive intellectual disability","year":2015,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Intellectual disability; Genetics; Mutation; Medicine; Medical genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.000398059,0.0008491757,0.000617101,0.0005577097,0.0009475594,0.0008374957,0.0006154085,0.008197779,0.003349745],"category_scores_gemma":[0.003495894,0.000253716,0.0006058583,0.0004058201,0.001151639,0.0007813869,0.000443138,0.003845162,0.002270564],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001210005,"about_ca_system_score_gemma":0.000467245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002750692,"about_ca_topic_score_gemma":0.002603065,"domain_scores_codex":[0.999651,0.00005898879,0.00004635102,0.00006155275,0.00008944111,0.00009260728],"domain_scores_gemma":[0.9989643,0.000457704,0.0001419598,0.00006473441,0.0001745271,0.000196663],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000174889,0.00006082636,0.01121813,0.00008504436,0.00003909256,0.7965125,0.0002437525,0.0003337999,0.002811873,0.004160576,0.1684708,0.01588871],"study_design_scores_gemma":[0.0001502528,0.0001284725,0.0101584,0.0001482541,0.00006448514,0.8817093,0.000321957,0.00194947,0.002324263,0.007565037,0.09543019,0.00004991572],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1114216,0.007772284,0.003215489,0.790458,0.01719682,0.00013364,0.0006508199,0.0005379767,0.06861342],"genre_scores_gemma":[0.7057212,0.006361884,0.002952451,0.2080471,0.04002858,0.00007454681,0.0003333888,0.0001228386,0.03635802],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008197779,"threshold_uncertainty_score":0.01120603,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04997666223426023,"score_gpt":0.3247915902764332,"score_spread":0.2748149280421729,"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."}}