{"id":"W4307842580","doi":"10.1016/j.gim.2022.09.010","title":"Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill Genome Centre; McGill University Health Centre; McGill University","funders":"National Institute of Neurological Disorders and Stroke; University College London Hospitals Biomedical Research Centre; National Human Genome Research Institute; Horizon 2020; European Research Council; International Rett Syndrome Foundation; Ataxia UK; Medical Research Council; Rosetrees Trust; National Institutes of Health; University College London; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Brain Research UK; Baylor-Hopkins Center for Mendelian Genomics; European Commission; Multiple System Atrophy Trust; Japan Society for the Promotion of Science; Horizon 2020 Framework Programme; Japan Agency for Medical Research and Development; Muscular Dystrophy UK; National Institute of General Medical Sciences; American Academy of Neurology; National Heart, Lung, and Blood Institute; American Brain Foundation; Takeda Science Foundation; Muscular Dystrophy Association; Johns Hopkins University; King Salman Center for Disability Research","keywords":"Exome sequencing; Missense mutation; Phenotype; Dystonia; Genotype; Allele; Monoamine neurotransmitter; Internal medicine; Disease; Medicine; Biology; Genetics; Endocrinology; Serotonin; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008114655,0.0003905244,0.0008131905,0.000578693,0.0001190244,0.000007458114,0.0002569341,0.00006998683,0.0005756935],"category_scores_gemma":[0.0001572676,0.0003550429,0.00007853804,0.001107229,0.00008688829,0.00003163595,0.00009930115,0.0004391724,0.000007251863],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003130223,"about_ca_system_score_gemma":0.0002154771,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003064517,"about_ca_topic_score_gemma":0.0001640075,"domain_scores_codex":[0.9965416,0.0003714048,0.0006577887,0.0007715677,0.001095137,0.0005624788],"domain_scores_gemma":[0.9985257,0.00009306392,0.000124814,0.0007072734,0.00003936809,0.000509814],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008547643,0.01416123,0.914883,0.0001737235,0.0005661054,0.04869796,0.005748264,0.0006083254,0.006884585,0.00003866926,0.003733345,0.003650035],"study_design_scores_gemma":[0.02341205,0.002901926,0.9657087,0.0001419653,0.000634718,0.00003530168,0.001398333,0.0006585434,0.00008689026,0.0003086992,0.004401466,0.0003113732],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900565,0.004901798,0.0001630206,0.001723084,0.0002500182,0.002488686,0.0002056091,0.00006656143,0.0001446974],"genre_scores_gemma":[0.9960583,0.0001804891,0.000168848,0.001385009,0.00009926776,0.0007497385,0.0008962048,0.00007139541,0.000390747],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05082574,"threshold_uncertainty_score":0.9998901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01761824684333207,"score_gpt":0.2849746575054182,"score_spread":0.2673564106620861,"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."}}