{"id":"W4311289814","doi":"10.1017/cjn.2022.336","title":"Investigation of a Fused in Sarcoma Splicing Mutation in a Chinese Amyotrophic Lateral Sclerosis Patient","year":2022,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"RNA splicing; Mutation; Exon; Molecular biology; Alternative splicing; Biology; Splice site mutation; Amyotrophic lateral sclerosis; Exon skipping; Genetics; RNA; Gene; Medicine; Pathology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.000227952,0.000792952,0.0004693108,0.001375477,0.001780307,0.0003883183,0.0005327059,0.001451156,0.002132956],"category_scores_gemma":[0.0005048376,0.000263868,0.0007125855,0.0006452546,0.0006063184,0.0003319688,0.0004849621,0.0006219925,0.0004288627],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009872678,"about_ca_system_score_gemma":0.0008688172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008086754,"about_ca_topic_score_gemma":0.005544638,"domain_scores_codex":[0.9997676,0.00001256337,0.00003026186,0.00009192589,0.00005096339,0.00004666826],"domain_scores_gemma":[0.9997174,0.00005452054,0.00003908935,0.000012637,0.00004768863,0.0001286123],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004071177,0.0002105895,0.2192191,0.0001181362,0.0000745884,0.688423,0.002050812,0.0005955659,0.07878277,0.0003799609,0.0007969906,0.008941361],"study_design_scores_gemma":[0.00006391732,0.001041191,0.3150796,0.00004805262,0.0002434374,0.6524907,0.001369216,0.003323809,0.02253923,0.0005880535,0.003107954,0.0001048582],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983998,0.0001461913,0.0003005234,0.0002262121,0.00001301617,0.00002836114,0.0001460322,0.00001635426,0.0007235294],"genre_scores_gemma":[0.9985851,0.000104493,0.0004722313,0.0001617887,0.00001866157,0.000009005023,0.0001159065,0.000005623957,0.0005270911],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008086754,"threshold_uncertainty_score":0.01607937,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05173635158532229,"score_gpt":0.2777455445635401,"score_spread":0.2260091929782178,"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."}}