{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001314829,0.0009407633,0.0003710788,0.0006553743,0.0007982586,0.000437907,0.0004209384,0.001347382,0.002292214],"category_scores_gemma":[0.0006918224,0.0002736418,0.0004504905,0.0002804264,0.0005593722,0.0002592818,0.0003106612,0.001007067,0.0005471138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003192328,"about_ca_system_score_gemma":0.0002219334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001674474,"about_ca_topic_score_gemma":0.001646503,"domain_scores_codex":[0.9998075,0.0000211116,0.000022399,0.00006622606,0.00003403821,0.00004867057],"domain_scores_gemma":[0.9995671,0.0001367079,0.000114435,0.00001994535,0.00003802049,0.000123896],"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":[0.0002914594,0.0001659619,0.04406896,0.00004168007,0.00002551032,0.9008025,0.0005021103,0.0001276341,0.0506646,0.0002651185,0.0005081195,0.002536364],"study_design_scores_gemma":[0.00003241096,0.0004932413,0.09067367,0.00003851394,0.0000653758,0.8935269,0.0003305724,0.0007785749,0.01201608,0.0002509875,0.001758875,0.00003479242],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967952,0.0002334341,0.0007691122,0.0004377478,0.00007169232,0.00003189046,0.000177099,0.00007605176,0.001407781],"genre_scores_gemma":[0.9986946,0.00006630842,0.0003823406,0.0001481811,0.00005689765,0.000004071936,0.00006603271,0.00001763658,0.0005639159],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002292214,"threshold_uncertainty_score":0.007668197,"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."}}