{"id":"W4220916005","doi":"10.1016/j.ajhg.2022.03.009","title":"De novo variants in ATP2B1 lead to neurodevelopmental delay","year":2022,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Missense mutation; Phenotype; Biology; HEK 293 cells; Proband; Nonsense mutation; Genetics; Mutation; Calmodulin; Neuroscience; Cell biology; Medicine; Internal medicine; Gene; Calcium","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":[0.0003323336,0.001532211,0.000586155,0.0007814628,0.0007163812,0.0005704299,0.0009114936,0.002297282,0.007609355],"category_scores_gemma":[0.000970853,0.0003367166,0.0005510823,0.0005272168,0.0009269534,0.0002881245,0.0006421666,0.00174808,0.001113689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004332807,"about_ca_system_score_gemma":0.0004300064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002078631,"about_ca_topic_score_gemma":0.00145395,"domain_scores_codex":[0.999663,0.00006980734,0.00004875044,0.00009949539,0.00007496895,0.00004398241],"domain_scores_gemma":[0.9989045,0.0004976374,0.0002711745,0.00007423885,0.00007576909,0.0001768125],"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":[0.003833299,0.000660466,0.01180095,0.0002031951,0.0004537172,0.1094201,0.0003784483,0.003350209,0.8465071,0.00590163,0.003307812,0.01418304],"study_design_scores_gemma":[0.001802727,0.003536621,0.1391737,0.0002803068,0.001333646,0.2707803,0.001187054,0.01917814,0.5133473,0.01459637,0.03450915,0.000274569],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9832953,0.0008818643,0.007604314,0.001178717,0.0006262988,0.00007154353,0.002131899,0.0003522726,0.003857748],"genre_scores_gemma":[0.9953263,0.0003816978,0.001334694,0.0002055373,0.0001032358,0.0000241274,0.0005534572,0.000127947,0.001943085],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007609355,"threshold_uncertainty_score":0.02545589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01371408603434131,"score_gpt":0.2598193624937151,"score_spread":0.2461052764593738,"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."}}