{"id":"W4414594472","doi":"10.1038/s41525-025-00523-2","title":"Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine","year":2025,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; University of British Columbia; BC Children's Hospital; Alberta Children's Hospital; Children's & Women's Health Centre of British Columbia; University of Victoria; University of Calgary","funders":"International Microbiome Centre, University of Calgary; Provincial Health Services Authority; Alberta Children's Hospital Foundation; Canterbury Medical Research Foundation; Genome British Columbia; BC Children's Hospital; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Phenotype; Allele; Gene; Mutation; Caenorhabditis elegans; Knockout mouse; Heterozygote advantage","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0004048188,0.0001850858,0.000276329,0.0001758946,0.00005409611,0.000008379097,0.000179325,0.0001274249,0.0001163015],"category_scores_gemma":[0.0002706819,0.000160126,0.00002549767,0.0002524473,0.0001600479,0.000002003206,0.0001171293,0.0001010293,0.000008669238],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006226911,"about_ca_system_score_gemma":0.000115934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001501055,"about_ca_topic_score_gemma":0.0001961498,"domain_scores_codex":[0.9987401,0.00007452213,0.0003534666,0.0004279711,0.0001018716,0.0003020497],"domain_scores_gemma":[0.9994193,0.00002029832,0.00006241129,0.000359307,0.0000532116,0.00008552861],"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":[0.0001297583,0.0000909482,0.01899133,0.00009259458,0.00006418021,0.00001475818,0.0002182518,0.00007542121,0.9629892,0.001098873,0.004358097,0.01187664],"study_design_scores_gemma":[0.01788302,0.0008903673,0.7279646,0.0003125375,0.0003546352,0.00006776799,0.001352619,0.0007352968,0.028153,0.003168122,0.2180666,0.001051474],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9760455,0.01540848,0.001018852,0.001285883,0.000264688,0.0002555107,0.000008057652,0.00001094117,0.005702116],"genre_scores_gemma":[0.990844,0.004266434,0.000190559,0.001441487,0.0001615114,0.00001833625,0.0001067541,0.00001548512,0.002955419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9348361,"threshold_uncertainty_score":0.6529747,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009527868898779211,"score_gpt":0.2592309288363391,"score_spread":0.2497030599375599,"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."}}