{"id":"W4210324962","doi":"10.1093/hmg/ddac040","title":"Deleterious variants in<i>CRLS1</i>lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease","year":2022,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Australian Research Council; Mito Foundation; National Health and Medical Research Council; NSW Health Pathology; U.S. Department of Defense","keywords":"Biology; Cardiolipin; Mitochondrial disease; Microcephaly; Encephalopathy; Mitochondrion; Genetics; Internal medicine; Endocrinology; Mitochondrial DNA; Medicine","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":[0.0001115072,0.0009634064,0.0002302054,0.0003858557,0.0002787689,0.0002123009,0.0002030481,0.0004640505,0.001245309],"category_scores_gemma":[0.0003339546,0.0001341643,0.0002400594,0.0002324429,0.0003062066,0.000114318,0.0003409589,0.0003498139,0.0003650291],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001694267,"about_ca_system_score_gemma":0.00009820685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006151722,"about_ca_topic_score_gemma":0.0007533313,"domain_scores_codex":[0.9998703,0.00001927751,0.00001852727,0.00004248998,0.00003122997,0.00001821336],"domain_scores_gemma":[0.9998153,0.00004058075,0.00008071031,0.00001207176,0.0000162226,0.00003519666],"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":[0.0004738494,0.00005916396,0.03038649,0.00009393047,0.0001101679,0.02940201,0.0003010356,0.0005086567,0.9249161,0.0003039638,0.0007125846,0.01273201],"study_design_scores_gemma":[0.0001107729,0.0008878748,0.2265868,0.00008747797,0.0003916413,0.2304657,0.0004841233,0.004448897,0.5250799,0.0006292511,0.01076658,0.00006094501],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956957,0.0003806609,0.002519626,0.0001357413,0.00002138571,0.00002053833,0.0003353109,0.0001401582,0.0007509349],"genre_scores_gemma":[0.9977905,0.0001694457,0.001238584,0.0000703138,0.00001146231,0.000007045856,0.0002376119,0.00002873397,0.0004462737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001245309,"threshold_uncertainty_score":0.004166007,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01925159838035715,"score_gpt":0.2719031610800083,"score_spread":0.2526515626996511,"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."}}