{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005589443,0.0002917064,0.0004623205,0.001921167,0.0003626575,0.0006955913,0.0002259646,0.0003645821,0.001029439],"category_scores_gemma":[0.001918748,0.0002754889,0.0002701567,0.0008025859,0.0003485891,0.0001723474,0.0006153326,0.0001179969,0.0002249326],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004471004,"about_ca_system_score_gemma":0.00043793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006817378,"about_ca_topic_score_gemma":0.009341577,"domain_scores_codex":[0.9991049,0.0001715578,0.0001246811,0.0002553523,0.0001996545,0.0001437818],"domain_scores_gemma":[0.9992288,0.0002463398,0.0002106192,0.00008472995,0.00008892656,0.0001405639],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001011822,0.00005186338,0.9242361,0.0001954919,0.0004116303,0.008084279,0.001675004,0.0009383819,0.02297295,0.0007546538,0.001167814,0.03850006],"study_design_scores_gemma":[0.00003549285,0.0001166818,0.979125,0.00008145519,0.0001806576,0.01052983,0.0005912707,0.000421405,0.003468951,0.0001484378,0.005278314,0.00002253149],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968715,0.001343977,0.0001692494,0.00003223744,0.000009487402,0.000006693708,0.0004152573,0.000009438993,0.001142076],"genre_scores_gemma":[0.9984988,0.0005072306,0.0001267775,0.00002839876,0.000003531558,0.000003435737,0.0004670198,0.000004350241,0.0003603651],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006817378,"threshold_uncertainty_score":0.01355541,"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."}}