{"id":"W2090531536","doi":"10.1002/ana.21037","title":"Unusually mild tuberous sclerosis phenotype is associated with<i>TSC2</i>R905Q mutation","year":2006,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":105,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; Université de Montréal; McGill University; Montreal Neurological Institute and Hospital","funders":"U.S. Public Health Service","keywords":"Missense mutation; Tuberous sclerosis; TSC2; Phenotype; Mutation; Genetics; TSC1; Genotype-phenotype distinction; Genotype; Biology; Gene; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003467574,0.0002339827,0.0005527791,0.0002815331,0.0001058711,0.00001829512,0.000206385,0.0002113487,0.0002255818],"category_scores_gemma":[0.0002460756,0.0002108537,0.0001296936,0.0006233219,0.0003211092,0.00009800812,0.00007615324,0.0004002519,0.0000788765],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001548115,"about_ca_system_score_gemma":0.0001249117,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008194176,"about_ca_topic_score_gemma":0.0003333172,"domain_scores_codex":[0.9975397,0.0002346986,0.0004848701,0.0004842468,0.0006160128,0.000640469],"domain_scores_gemma":[0.9981033,0.0003636251,0.0002204383,0.0004631804,0.0007112095,0.0001382163],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.01238483,0.007137138,0.3114502,0.0003872077,0.001600588,0.001421134,0.001298184,0.001443472,0.3697657,0.004339719,0.2615547,0.02721711],"study_design_scores_gemma":[0.00244386,0.004476767,0.9630748,0.0000836715,0.00008909815,0.0001243199,0.00000997425,0.0005098487,0.02640744,0.0009350181,0.001629321,0.0002158699],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9759345,0.0003090764,0.00004479516,0.02019426,0.00006967231,0.0003951919,0.00003582346,0.0001108644,0.00290583],"genre_scores_gemma":[0.9875282,0.000050739,0.0001174299,0.0116024,0.0001157787,0.00002419649,0.00008060698,0.00006094266,0.0004196774],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6516246,"threshold_uncertainty_score":0.8598363,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1190287504022719,"score_gpt":0.326980621472486,"score_spread":0.2079518710702141,"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."}}