{"id":"W2157661564","doi":"10.1136/jmedgenet-2013-101680","title":"Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly","year":2013,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; Montreal Children's Hospital; Université de Montréal; Douglas Mental Health University Institute; McGill University; Centre Hospitalier de l’Université de Montréal; Institute for Research in Immunology and Cancer; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research; Canada Research Chairs","keywords":"Megalencephaly; TSC1; TSC2; Tuberous sclerosis; Intellectual disability; Exome sequencing; mTORC1; Biology; Mutation; Loss function; Disease gene identification; Genetics; Cancer research; Medicine; PI3K/AKT/mTOR pathway; Phenotype; Pathology; Signal transduction; 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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001370546,0.0001034057,0.0004479239,0.00009244768,0.00002439351,0.000009976108,0.0003622594,0.000127211,0.0009866202],"category_scores_gemma":[0.003855572,0.00006188516,0.0001099457,0.0003246429,0.001174821,0.00004125198,0.0002063759,0.000632921,0.000002565877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006945037,"about_ca_system_score_gemma":0.0002635368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001763781,"about_ca_topic_score_gemma":0.00008973613,"domain_scores_codex":[0.9967833,0.0002992197,0.000900674,0.0001157371,0.001691954,0.0002091305],"domain_scores_gemma":[0.9982779,0.0005345059,0.0002840287,0.0002733484,0.0003577934,0.000272417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006296094,0.002456026,0.6127275,0.001075055,0.0001588661,0.00001964687,0.004453892,0.00003272294,0.2640033,0.0002245912,0.001358141,0.1128606],"study_design_scores_gemma":[0.00216349,0.001155897,0.9802569,0.000876922,0.00004175378,0.0001770668,0.0008250957,0.004590773,0.008921673,0.0006595733,0.0002586152,0.00007230173],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922689,0.0005812232,0.0001465568,0.006381699,0.00005110547,0.0004845037,0.000002857017,0.000002256449,0.00008095163],"genre_scores_gemma":[0.9985106,0.0003013265,0.0009655165,0.00007584025,0.0001008015,0.00000564008,6.136825e-7,0.00001063984,0.0000289944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3675293,"threshold_uncertainty_score":0.9999266,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06127818671081958,"score_gpt":0.3365506086366457,"score_spread":0.2752724219258261,"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."}}