{"id":"W1572302312","doi":"10.1002/oby.20886","title":"Identification of two novel loss-of-function <i>SIM1</i> mutations in two overweight children with developmental delay","year":2014,"lang":"en","type":"article","venue":"Obesity","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Overweight; Phenotype; Loss function; Global developmental delay; Hypotonia; Obesity; Mutation; Genetics; Weight loss; Medicine; Gene; Biology; Internal medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000206227,0.00008168661,0.00009830938,0.00003924709,0.00003781631,0.000005854874,0.00008812681,0.00004123361,0.00001226127],"category_scores_gemma":[0.0000263967,0.00007693293,0.00002955257,0.0001023616,0.00006247609,0.000006748252,0.00003530827,0.00004773795,0.000005085975],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001268372,"about_ca_system_score_gemma":0.00005411654,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009030872,"about_ca_topic_score_gemma":0.0002708305,"domain_scores_codex":[0.9993777,0.00003379062,0.0002050564,0.0001850493,0.0001011803,0.00009724576],"domain_scores_gemma":[0.999614,0.00000780512,0.000134182,0.0001479349,0.00006862667,0.00002744149],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004250784,0.0001447696,0.3921954,0.00001137034,0.00002422841,1.787987e-7,0.00004781796,0.0001261459,0.606276,0.0005707862,0.0000131288,0.0005475854],"study_design_scores_gemma":[0.0008410594,0.00008112108,0.2922253,0.00001230636,0.00001429985,0.0000151745,0.000009381715,0.00006842572,0.7063457,0.0001651582,0.0001339843,0.00008809668],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767565,0.00002917566,0.02226839,0.000007412572,0.00003226272,0.0001632543,0.0000335213,0.000004850751,0.0007046151],"genre_scores_gemma":[0.9978653,0.000005447134,0.001755894,0.00003181182,0.00004072651,0.00001287838,0.000214898,0.000008479234,0.00006453031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1000696,"threshold_uncertainty_score":0.3137234,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007840162906326309,"score_gpt":0.2377685657898373,"score_spread":0.229928402883511,"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."}}