{"id":"W2084715654","doi":"10.1002/humu.9481","title":"Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany","year":2007,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre","funders":"","keywords":"Multiplex ligation-dependent probe amplification; Exon; Biology; Genetics; Gene duplication; Mutation; Allele; Phenylalanine hydroxylase; Molecular biology; Multiplex; Frameshift mutation; Gene; Phenylalanine","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":[0.0002485748,0.00006043574,0.00006855092,0.00006810821,0.00004183358,0.000007660072,0.00002445374,0.00006050868,0.00001506212],"category_scores_gemma":[0.00002209398,0.00006501195,0.00001847959,0.00006477294,0.00004897339,0.000004417172,0.0000148434,0.00002923176,0.000001776988],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003052858,"about_ca_system_score_gemma":0.00001703215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002186196,"about_ca_topic_score_gemma":0.0003143641,"domain_scores_codex":[0.9994521,0.00002292542,0.0001996194,0.0001426827,0.00007834094,0.0001043065],"domain_scores_gemma":[0.9997488,0.00000338168,0.00008029081,0.0000939031,0.00004818911,0.00002544146],"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":[0.00002527372,0.00006413939,0.007118215,0.00003969571,0.000007096666,0.00000311025,0.0002850413,0.0001002463,0.9813585,0.0002914577,0.00007142752,0.01063585],"study_design_scores_gemma":[0.0008761035,0.00009847506,0.7178217,0.00003011496,0.00001970784,0.00001083144,0.0003771326,0.0001065739,0.2779583,0.0009107389,0.00163801,0.0001524111],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921908,0.0003508026,0.006567854,0.00001682375,0.00004489386,0.000134729,0.000002329639,0.000002813154,0.0006889928],"genre_scores_gemma":[0.999109,0.00002638743,0.0005117656,0.00002666468,0.00004868743,0.000004923939,0.0001054299,0.000007457621,0.0001596838],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7107034,"threshold_uncertainty_score":0.265111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008826723034723614,"score_gpt":0.2720068228500137,"score_spread":0.2631800998152901,"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."}}