{"id":"W2388084951","doi":"","title":"The progress of phenylalanine hydroxylase gene mutations as well as relationship between genotype and phenotype.","year":2010,"lang":"en","type":"article","venue":"Chinese Journal of Birth Health & Heredity","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Phenylalanine hydroxylase; Hyperphenylalaninemia; Phenotype; Phenylalanine; Genotype; Allele; Gene; Genetics; Tyrosine hydroxylase; Biology; Tyrosine; Inborn error of metabolism; Mutation; Phenylketonurias; Enzyme; Gene mutation; Genotype-phenotype distinction; Biochemistry; Amino acid","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005174715,0.0002773331,0.0002928612,0.001883765,0.0001879176,0.000597783,0.000215111,0.0003045198,0.00135971],"category_scores_gemma":[0.00128418,0.0001360862,0.0002959111,0.001413927,0.0002161327,0.0004988044,0.0002657968,0.0003199626,0.0006203525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003139461,"about_ca_system_score_gemma":0.0003736335,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001517258,"about_ca_topic_score_gemma":0.001088672,"domain_scores_codex":[0.9995697,0.00009477516,0.00006774871,0.0001205635,0.0001121751,0.00003495993],"domain_scores_gemma":[0.9990089,0.0002659713,0.0003216013,0.00008952921,0.0002036649,0.0001103345],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006050944,0.00009680302,0.7327132,0.0004786066,0.0001690498,0.004505549,0.0004154022,0.0003560219,0.03316909,0.0008305011,0.001466858,0.2251938],"study_design_scores_gemma":[0.00001330268,0.0003848079,0.9299667,0.0001241673,0.0002626181,0.02879856,0.0003612039,0.0004313343,0.01345048,0.0008683966,0.02529975,0.00003862743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8955138,0.08467674,0.003371943,0.0008790948,0.0001727534,0.00003266962,0.002656601,0.000137606,0.0125588],"genre_scores_gemma":[0.9594113,0.03274431,0.002106474,0.0001756598,0.0001726141,0.00001796649,0.001741804,0.00003197099,0.003598003],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001883765,"threshold_uncertainty_score":0.004548669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008940907621174358,"score_gpt":0.2997746913207008,"score_spread":0.2908337836995265,"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."}}