{"id":"W42121739","doi":"10.1007/8904_2013_277","title":"Danon Disease Due to a Novel LAMP2 Microduplication","year":2013,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Children's Hospital of Eastern Ontario","funders":"","keywords":"Proband; Multiplex ligation-dependent probe amplification; Medicine; Missense mutation; Frameshift mutation; Pathology; Internal medicine; Genetics; Exon; Biology; Mutation; Gene","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":[0.0002344783,0.000885025,0.0003244912,0.001531468,0.0007449761,0.0005006674,0.0004513707,0.001538984,0.00294364],"category_scores_gemma":[0.0007926819,0.0002711937,0.0003198165,0.0004141898,0.0007897847,0.0004595851,0.0008086482,0.0006088382,0.0004282127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003537651,"about_ca_system_score_gemma":0.0001837064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004657932,"about_ca_topic_score_gemma":0.0005460255,"domain_scores_codex":[0.9997174,0.00003616767,0.00003212227,0.0000884011,0.00004881208,0.00007695501],"domain_scores_gemma":[0.9994054,0.0002482158,0.0001095244,0.00005084688,0.00003839775,0.0001476573],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000382946,0.00009392921,0.01565856,0.00008184459,0.00006264324,0.8810473,0.0003725302,0.0001389512,0.09531065,0.001427874,0.0007332715,0.004689676],"study_design_scores_gemma":[0.0001158256,0.0003209739,0.05766224,0.00004757226,0.0001961385,0.8872146,0.0003335945,0.001536609,0.042324,0.001263504,0.008940928,0.00004403467],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876888,0.0007985327,0.001914652,0.0006823971,0.0002290598,0.00004087776,0.0002425552,0.00009075926,0.008312375],"genre_scores_gemma":[0.996833,0.0002304451,0.0006722393,0.0001884984,0.0001826317,0.00001595822,0.00009897151,0.00001921421,0.001758979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00294364,"threshold_uncertainty_score":0.009847462,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01190125807916148,"score_gpt":0.2555176854309981,"score_spread":0.2436164273518366,"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."}}