{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002211145,0.001163736,0.0003561961,0.001210833,0.0005860798,0.0003859701,0.0004679762,0.001149549,0.001164012],"category_scores_gemma":[0.001003985,0.0003875114,0.000525518,0.0005421878,0.0009383408,0.0002556591,0.0006465215,0.0006958778,0.0002436602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005345505,"about_ca_system_score_gemma":0.0003483978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001421853,"about_ca_topic_score_gemma":0.001207661,"domain_scores_codex":[0.9996598,0.00002870236,0.00003788791,0.0001061078,0.00008168115,0.00008594058],"domain_scores_gemma":[0.9995056,0.0001134525,0.0001682906,0.00002011468,0.00002939707,0.0001631003],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00119608,0.0004975286,0.4027376,0.0002239216,0.0001557408,0.3843243,0.002046932,0.0009252218,0.1896211,0.0007832471,0.0006150096,0.0168733],"study_design_scores_gemma":[0.0001747949,0.001142916,0.5000085,0.00004930457,0.0001659891,0.4373953,0.0005686762,0.001167994,0.05648211,0.0003004505,0.002475818,0.00006810276],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991236,0.00007174529,0.0003991426,0.00004843283,0.000007281297,0.00001383541,0.00008841357,0.00001291209,0.0002345177],"genre_scores_gemma":[0.998638,0.00008236267,0.0009463636,0.00004039886,0.00001076253,0.00001335947,0.0001109538,0.00000971547,0.0001481533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001421853,"threshold_uncertainty_score":0.003894031,"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."}}