{"id":"W4242897765","doi":"10.1016/j.ymgmr.2019.100472","title":"Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Centre Hospitalier Universitaire Sainte-Justine; B.C. Women's Hospital & Health Centre; BC Children's Hospital","funders":"","keywords":"Exome sequencing; Compound heterozygosity; Lactic acidosis; Pulmonary hypertension; Exome; Medicine; Biology; Pathology; Gene; Mutation; Genetics; Internal 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001788214,0.0002328156,0.0002951798,0.00009807914,0.00005770817,0.0000398022,0.00006223777,0.000216167,0.00002484167],"category_scores_gemma":[0.00002879888,0.0002014658,0.00004473573,0.00012179,0.0001003396,0.000009751502,0.0001126073,0.0001308631,0.000002368752],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004326295,"about_ca_system_score_gemma":0.00006001392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004757253,"about_ca_topic_score_gemma":0.00004933443,"domain_scores_codex":[0.9984072,0.0001142492,0.0003464255,0.0006822465,0.0001619851,0.0002878808],"domain_scores_gemma":[0.9991277,0.000005875138,0.0001384637,0.0004704231,0.00009421488,0.0001632495],"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":[0.0001027577,0.00007950734,0.05996967,0.00001370711,0.00002560186,0.0005619393,0.00004812856,0.00006784515,0.9374228,0.00009055943,0.00001387913,0.001603567],"study_design_scores_gemma":[0.003069313,0.001248924,0.8334303,0.00003256325,0.0002587452,0.01366448,0.0002331005,0.001371162,0.12103,0.0004879072,0.02402371,0.001149859],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893895,0.008943412,0.0001811917,0.00005470566,0.0003220144,0.0003944629,0.00000612298,0.00001258976,0.0006959634],"genre_scores_gemma":[0.997583,0.0004174701,0.001334558,0.0003158807,0.0000408225,0.00001595535,0.0001506242,0.0000348175,0.0001068114],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8163929,"threshold_uncertainty_score":0.8215535,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008092660513584966,"score_gpt":0.2152436155755023,"score_spread":0.2071509550619173,"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."}}