{"id":"W2017409907","doi":"10.1002/ajmg.a.20466","title":"Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; McMaster University","funders":"Canadian Institutes of Health Research; McMaster University; Heart and Stroke Foundation of Canada","keywords":"Spinal muscular atrophy; Lactic acidosis; Compound heterozygosity; Cytochrome c oxidase; SMA*; Biology; Exon; Muscle biopsy; Hypotonia; Pathology; Mutation; Molecular biology; Internal medicine; Endocrinology; Medicine; Genetics; Gene; Biopsy; Mitochondrion","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":[0.0009035028,0.0001723636,0.0004591234,0.0001777453,0.00007504287,0.00002823457,0.000255337,0.00008543833,0.0005376433],"category_scores_gemma":[0.001806039,0.000142393,0.0002305273,0.000597226,0.0004623767,0.0000296586,0.00005490304,0.0005823064,0.00005753471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003507097,"about_ca_system_score_gemma":0.001186035,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000245374,"about_ca_topic_score_gemma":0.000003238956,"domain_scores_codex":[0.9962517,0.000198668,0.0005784346,0.0002347065,0.002313254,0.0004232455],"domain_scores_gemma":[0.9980729,0.00007228477,0.0003049024,0.0002740404,0.0005007876,0.0007751429],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003503594,0.004520837,0.04041947,0.0005833374,0.002988549,0.008496506,0.002303895,0.0007557423,0.08423292,0.001866331,0.005229558,0.8450993],"study_design_scores_gemma":[0.02884374,0.05448167,0.08885748,0.002224076,0.002713967,0.03801161,0.007871474,0.005245259,0.02570127,0.001603706,0.7425006,0.001945141],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9863203,0.003122525,0.007281975,0.001537916,0.0003539972,0.0002137965,6.636357e-7,0.00001036287,0.001158451],"genre_scores_gemma":[0.9897003,0.001610147,0.007195755,0.0009680897,0.0003376749,0.000003757453,0.000002776313,0.00004127597,0.0001402077],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8431541,"threshold_uncertainty_score":0.5886818,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02782372614885439,"score_gpt":0.3508265622114996,"score_spread":0.3230028360626452,"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."}}