{"id":"W2811360205","doi":"10.1017/cjn.2018.236","title":"P.134 Infantile Onset Multisystem Neurologic, Endocrine and Pancreatic Disease: case series and review","year":2018,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Missense mutation; Nonsense mutation; Genetics; Mutation; Frameshift mutation; Medicine; Stop codon; Biology; Exon; Exome sequencing; Bioinformatics; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002828481,0.0011927,0.001288498,0.007461398,0.0005527657,0.001223544,0.001351696,0.001358938,0.004038495],"category_scores_gemma":[0.0008932073,0.0003687042,0.000534418,0.0063159,0.001008448,0.00155053,0.001006093,0.00107343,0.002510454],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004772273,"about_ca_system_score_gemma":0.0008596649,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009768761,"about_ca_topic_score_gemma":0.0008389693,"domain_scores_codex":[0.9996676,0.00003312891,0.0001134121,0.00007954007,0.00006816964,0.00003808782],"domain_scores_gemma":[0.9992859,0.0002832121,0.0002203614,0.00002880447,0.0000944917,0.00008734405],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0001367783,0.0001624606,0.01308668,0.02594867,0.0003757852,0.3011144,0.0007591924,0.0006735881,0.005299429,0.00216815,0.08191502,0.5683599],"study_design_scores_gemma":[0.00001557761,0.00006801359,0.006775829,0.003185261,0.000235953,0.8295331,0.0003322896,0.0001583548,0.0006219207,0.0007113729,0.1583256,0.00003665703],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.008707194,0.9806955,0.001032389,0.001004634,0.0008919643,0.00005055356,0.0002440433,0.00009621104,0.007277561],"genre_scores_gemma":[0.05325941,0.9389054,0.001177365,0.0009989282,0.002949099,0.00005364455,0.000618282,0.00004038728,0.001997451],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.007461398,"threshold_uncertainty_score":0.01351005,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01566088519322203,"score_gpt":0.2582289291542799,"score_spread":0.2425680439610579,"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."}}