{"id":"W4289520920","doi":"10.1111/cge.14207","title":"Deep intronic variant in <i>MVK</i> as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa","year":2022,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Leukemia & Lymphoma Society of Canada; Ontario Genomics; University Health Network; University of Toronto; Hudbay Minerals (Canada); Hospital for Sick Children","funders":"Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Genetics; Biology; Medical genetics; Frameshift mutation; Exon; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001087317,0.0002677861,0.0003647481,0.0000744459,0.0002124687,0.00005447997,0.000542553,0.0002303813,0.0002496181],"category_scores_gemma":[0.0007683689,0.000303511,0.0002546368,0.0001728981,0.0001344953,0.000005047552,0.0007537078,0.0003637249,0.00004964491],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004547805,"about_ca_system_score_gemma":0.0005805284,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001883995,"about_ca_topic_score_gemma":0.00007789826,"domain_scores_codex":[0.99707,0.0002924294,0.0009651238,0.000763141,0.0002936358,0.0006156822],"domain_scores_gemma":[0.9988927,0.0001624058,0.0002537603,0.000433738,0.00008598457,0.0001713792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.02375187,0.01402654,0.4369137,0.001620791,0.005977512,0.007165683,0.006637835,0.02570681,0.2747026,0.006278703,0.09062359,0.1065943],"study_design_scores_gemma":[0.04784692,0.02093551,0.09743932,0.0002256842,0.001164307,0.002653165,0.003629537,0.01989316,0.03308452,0.03002521,0.7366166,0.00648613],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929451,0.001057417,0.0007718665,0.0004698826,0.0007534922,0.0009373861,0.00002086012,0.00001821294,0.003025788],"genre_scores_gemma":[0.9924422,0.001648408,0.002118871,0.001383613,0.0002981796,0.0003319176,0.0003643719,0.00006501008,0.001347446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6459929,"threshold_uncertainty_score":0.9999417,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02589512503503076,"score_gpt":0.3418284354482868,"score_spread":0.315933310413256,"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."}}