{"id":"W2158977284","doi":"10.1111/j.1399-0004.2009.01216.x","title":"Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?","year":2009,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Biology; Allele; Genetics; Exon; Mutation; Gene; Null allele; Compound heterozygosity; Enhancer; Phenotype; Gene expression; Molecular biology","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":[0.0003139763,0.001095491,0.0007836426,0.0007261304,0.0006253851,0.0003872581,0.0004538164,0.0008892014,0.001778489],"category_scores_gemma":[0.002357502,0.0003218662,0.0005113225,0.0003795843,0.0007254367,0.0002418848,0.0005308727,0.000611271,0.0004037638],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002605536,"about_ca_system_score_gemma":0.0002095414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007218767,"about_ca_topic_score_gemma":0.0007425433,"domain_scores_codex":[0.9994233,0.0001378949,0.00005469184,0.0002029573,0.0000950529,0.00008611671],"domain_scores_gemma":[0.9987932,0.0005176047,0.0002296719,0.0001053764,0.00006967886,0.0002844743],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001638018,0.0004304482,0.4171469,0.0001583314,0.0002835792,0.3457225,0.003633573,0.0006327848,0.2058861,0.0005715222,0.0005752929,0.02332111],"study_design_scores_gemma":[0.0001123032,0.0009228433,0.3499159,0.00004325665,0.0002452082,0.6328759,0.0006503084,0.0007554948,0.01246154,0.0004109587,0.001495227,0.0001112148],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988091,0.0001372883,0.0005080455,0.00006289899,0.000007646015,0.00000782744,0.00006079989,0.00001499831,0.0003913498],"genre_scores_gemma":[0.9991567,0.00009948749,0.0003683311,0.00006026165,0.0000196124,0.000007999349,0.00009970091,0.00001837536,0.0001694453],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001778489,"threshold_uncertainty_score":0.005949616,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02610058028350679,"score_gpt":0.3332312833543012,"score_spread":0.3071307030707944,"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."}}