{"id":"W2071041208","doi":"10.1016/j.gene.2012.01.056","title":"A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy","year":2012,"lang":"en","type":"article","venue":"Gene","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke; British Columbia Children's Hospital","funders":"","keywords":"Hypertrophic cardiomyopathy; Biology; Genetics; Gene; Genetic testing; Mutation","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":[0.000365082,0.001326168,0.000886779,0.002210108,0.001931477,0.000794688,0.001123736,0.005018678,0.002127881],"category_scores_gemma":[0.004943879,0.0004714873,0.001015911,0.0007444803,0.001653473,0.001006761,0.0009550109,0.002048766,0.0004482588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006744459,"about_ca_system_score_gemma":0.0006393333,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002088988,"about_ca_topic_score_gemma":0.001382407,"domain_scores_codex":[0.9995499,0.00005421898,0.00005152783,0.0001397681,0.00007327808,0.000131255],"domain_scores_gemma":[0.9978275,0.00117631,0.000252693,0.00006780247,0.0001050452,0.0005706561],"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":[0.00005659147,0.00002035883,0.006042623,0.00001029296,0.000003527434,0.9920253,0.0001763967,0.00005967402,0.001017126,0.0001302399,0.0001245626,0.0003333787],"study_design_scores_gemma":[0.00002068105,0.0001635306,0.01348686,0.00002417839,0.0000237801,0.9836764,0.0003397298,0.0005851867,0.0009383117,0.0003832781,0.0003372699,0.00002080516],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908234,0.0009064703,0.00139318,0.003887397,0.0002664991,0.00004836002,0.000200588,0.00004819428,0.002425947],"genre_scores_gemma":[0.9977811,0.0001846682,0.0006551553,0.0006261047,0.0003464065,0.000008129865,0.00004258355,0.00001620299,0.0003396691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005018678,"threshold_uncertainty_score":0.007118464,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02230886585712283,"score_gpt":0.2701406894920695,"score_spread":0.2478318236349467,"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."}}