{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003148789,0.001839319,0.001037134,0.001433951,0.0025229,0.0008488044,0.0005469027,0.001157425,0.00370986],"category_scores_gemma":[0.001142768,0.0008957492,0.0008598378,0.001188925,0.0008943293,0.000380368,0.0008895658,0.0006668046,0.0005893442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003745024,"about_ca_system_score_gemma":0.0003486425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01036958,"about_ca_topic_score_gemma":0.005527296,"domain_scores_codex":[0.9993325,0.00009623306,0.00008630539,0.0002603199,0.0001113646,0.0001132421],"domain_scores_gemma":[0.9995741,0.0001196805,0.00008927719,0.0000356986,0.00006801968,0.0001132058],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002174765,0.001136489,0.7567648,0.0001216812,0.0005981534,0.1890597,0.00877934,0.0002242153,0.02664617,0.0003105766,0.0007737879,0.01341032],"study_design_scores_gemma":[0.000192346,0.001429105,0.8991228,0.00005749919,0.0006223751,0.09119464,0.002789057,0.0004295291,0.001621573,0.0002651016,0.00220774,0.00006821747],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989371,0.0001865596,0.000176919,0.00002736604,0.000007374958,0.00002002381,0.0001500217,0.000006526589,0.0004882078],"genre_scores_gemma":[0.9985389,0.0001694911,0.0001737436,0.00005684203,0.00001301852,0.00001981834,0.0002096972,0.00001239782,0.0008061853],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01036958,"threshold_uncertainty_score":0.0206185,"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."}}