{"id":"W4395041219","doi":"10.1002/mds.29818","title":"Adult‐Onset Dystonia and Hypertrophic Cardiomyopathy in Patient with a De Novo 16q12.2q21 Deletion","year":2024,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Dystonia; Hypertrophic cardiomyopathy; Medicine; Internal medicine; Psychology; Pediatrics; Psychiatry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000204027,0.001367391,0.0007805099,0.001150476,0.001028219,0.0005305221,0.0004208205,0.002028877,0.001760469],"category_scores_gemma":[0.0008911018,0.0004950497,0.0005234458,0.0008238421,0.0005900523,0.0005991114,0.0007827485,0.0008090487,0.0003950084],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003125932,"about_ca_system_score_gemma":0.0002816477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001228942,"about_ca_topic_score_gemma":0.001802851,"domain_scores_codex":[0.9996853,0.00002603836,0.00004228487,0.0001092462,0.00004132634,0.00009584666],"domain_scores_gemma":[0.9995178,0.0001146867,0.0001306617,0.0000264265,0.00002798383,0.0001824178],"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":[0.00003621184,0.00001746762,0.01603966,0.00001978893,0.000008702908,0.9801051,0.0001721423,0.00005470849,0.002098648,0.00006924704,0.000235108,0.001143166],"study_design_scores_gemma":[0.000007731242,0.00003655595,0.01320271,0.00001022053,0.0000129673,0.9857683,0.00008171432,0.000101006,0.0002937324,0.00006882177,0.000409585,0.000006679751],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920764,0.002247057,0.001279688,0.0007953916,0.0001144234,0.00004785724,0.0002612666,0.00008742551,0.003090372],"genre_scores_gemma":[0.9973133,0.000622903,0.0005915538,0.000284764,0.0002402059,0.00001382489,0.0001362143,0.00001341163,0.0007838514],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002028877,"threshold_uncertainty_score":0.005889416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004185051420225303,"score_gpt":0.2194761733667459,"score_spread":0.2152911219465206,"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."}}