{"id":"W4200597938","doi":"10.3390/cells10123481","title":"Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3","year":2021,"lang":"en","type":"article","venue":"Cells","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"European Regional Development Fund","keywords":"Vesicular acetylcholine transporter; Missense mutation; Nonsense; Nonsense mutation; Exome sequencing; Biology; Phenotype; Compound heterozygosity; Exome; Congenital myasthenic syndrome; Genetics; Zebrafish; Neuromuscular junction; Cell biology; Acetylcholine; Endocrinology; Neuroscience; 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":[0.0001549315,0.0007296803,0.0002692999,0.000466231,0.0002484418,0.0001576127,0.0001822324,0.0006504733,0.00217805],"category_scores_gemma":[0.0003280744,0.0001033078,0.0003040968,0.0002338355,0.0004612344,0.00008780701,0.0002918724,0.000292032,0.0003581977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001598663,"about_ca_system_score_gemma":0.0001404229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004805766,"about_ca_topic_score_gemma":0.0006645141,"domain_scores_codex":[0.9998612,0.00001856707,0.00002226517,0.00004510175,0.00003133799,0.00002146129],"domain_scores_gemma":[0.9997151,0.00007938016,0.0001028929,0.00001293912,0.00001756747,0.00007217404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001229084,0.0001220278,0.04565616,0.0001442681,0.0001018894,0.2451777,0.0002134559,0.0003418993,0.6995197,0.0003114809,0.0004197482,0.006762589],"study_design_scores_gemma":[0.0001408232,0.001551768,0.3671547,0.00005207514,0.0002683843,0.5303827,0.0002199188,0.001870312,0.09541172,0.0004209535,0.002476164,0.00005050426],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981389,0.0003378567,0.0005814176,0.00005831788,0.00001880024,0.00001225521,0.0002652484,0.00003730128,0.000549824],"genre_scores_gemma":[0.9991117,0.0001107393,0.0003631976,0.00002570131,0.00001421576,0.000005764186,0.0001644836,0.00001129824,0.0001928952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00217805,"threshold_uncertainty_score":0.007286251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01232954376865772,"score_gpt":0.2242862554946081,"score_spread":0.2119567117259504,"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."}}