{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001204576,0.0006899991,0.0002517641,0.0006726884,0.0005324612,0.0002384621,0.0002680064,0.0004040614,0.001723759],"category_scores_gemma":[0.0004801038,0.0001413863,0.0002362698,0.0005111505,0.0005440258,0.0001111337,0.0002232814,0.0002357842,0.0003403997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004375319,"about_ca_system_score_gemma":0.0005711943,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02585883,"about_ca_topic_score_gemma":0.02818452,"domain_scores_codex":[0.9998568,0.00001266905,0.00001192299,0.00003893837,0.00004228007,0.00003730456],"domain_scores_gemma":[0.9997447,0.00004097938,0.0001050432,0.00001166002,0.00003094543,0.00006661315],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006262431,0.0001176243,0.3801502,0.0002604008,0.000214118,0.2925005,0.001104204,0.0007498339,0.302638,0.0004283506,0.002395922,0.01881453],"study_design_scores_gemma":[0.00007023288,0.0002409512,0.515905,0.00003198253,0.0001911425,0.4643165,0.0003348501,0.0005335935,0.01447822,0.0001467518,0.00370618,0.00004459967],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979277,0.000237026,0.0002475509,0.00006076339,0.000004498301,0.000009294023,0.000137064,0.00004250971,0.00133352],"genre_scores_gemma":[0.9992025,0.00009825177,0.0002791412,0.00004376133,0.00001350541,0.000002181574,0.0001460061,0.000008245873,0.0002064652],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02585883,"threshold_uncertainty_score":0.05141664,"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."}}