{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009462408,0.00007876923,0.0001395127,0.00001616301,0.00002077473,0.000009420212,0.00002846617,0.0001132223,0.00001847405],"category_scores_gemma":[0.00001907155,0.00007388916,0.00002544766,0.00003614314,0.0002299308,0.000001557223,0.00002849941,0.00005661332,9.237547e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002081893,"about_ca_system_score_gemma":0.00002920904,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001219065,"about_ca_topic_score_gemma":0.00004101589,"domain_scores_codex":[0.9994028,0.00006243813,0.0001493425,0.0002293925,0.00004820128,0.0001077793],"domain_scores_gemma":[0.9997616,0.00001831499,0.00002943231,0.000110273,0.00002955113,0.00005076498],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008717948,0.00005151561,0.006006186,0.00002480703,0.000006436877,0.0004186863,0.00007705622,0.000003671695,0.993023,0.00006014641,0.000007670022,0.0002336608],"study_design_scores_gemma":[0.0007714536,0.0001673213,0.03632526,0.0000246604,0.0000166895,0.0004956541,0.0001356121,0.00005845036,0.9601025,0.0002762906,0.001475184,0.0001509089],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99726,0.001698388,0.0006198912,0.00007170095,0.00005099467,0.00005616652,0.00001178999,0.000002623881,0.000228396],"genre_scores_gemma":[0.9984382,0.0005514093,0.0006757475,0.00008535513,0.00002240344,0.000001185193,0.0001309761,0.000004938291,0.00008979433],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03292046,"threshold_uncertainty_score":0.3013113,"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."}}