{"id":"W2896269115","doi":"10.1136/jmedgenet-2018-105421","title":"Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood","year":2018,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Institute of Circulatory and Respiratory Health","keywords":"Missense mutation; Pathology; Hypoplasia; Nonsense mutation; Biology; Exome sequencing; Cerebellar vermis; Medicine; Mutation; Internal medicine; Genetics; Endocrinology; Cerebellum; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005998657,0.0001026839,0.0002478482,0.0001066499,0.00005072959,0.00001624868,0.000171026,0.0001527015,0.0001709169],"category_scores_gemma":[0.002059828,0.00005656166,0.00007037883,0.0002345821,0.000353368,0.0000242496,0.00006755597,0.0005015602,0.000005907649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007130968,"about_ca_system_score_gemma":0.000249393,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007184818,"about_ca_topic_score_gemma":0.000024423,"domain_scores_codex":[0.9985602,0.00007314271,0.0002675832,0.0001136572,0.00078836,0.0001970419],"domain_scores_gemma":[0.9987736,0.0004150533,0.0001298135,0.0001151541,0.00006325047,0.0005031816],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002681819,0.01256139,0.5756733,0.001646268,0.002630768,0.03509423,0.01079097,0.00009236552,0.02686509,0.001784862,0.2131987,0.1169802],"study_design_scores_gemma":[0.01682798,0.01072796,0.8865892,0.0004559746,0.001019167,0.02834632,0.0004153312,0.001584689,0.0004176016,0.001532176,0.05173088,0.0003527049],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9326717,0.001243482,0.0001906897,0.06525004,0.0002646025,0.0001374416,0.000003082204,0.000005685793,0.0002332868],"genre_scores_gemma":[0.9839627,0.001812709,0.0002744679,0.01341316,0.0004378093,0.000001928353,0.000001206536,0.00000992979,0.00008608915],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3109159,"threshold_uncertainty_score":0.2465955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03517068548757522,"score_gpt":0.2964624896170759,"score_spread":0.2612918041295006,"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."}}