{"id":"W4297373429","doi":"10.1016/j.sjbs.2022.103461","title":"Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations","year":2022,"lang":"en","type":"article","venue":"Saudi Journal of Biological Sciences","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"King Fahad Medical City","keywords":"Heterozygote advantage; Compound heterozygosity; Mutation; Population; Allele; Propionic acidemia; Molecular biology; Wild type; Genetics; Biology; Medicine; Gene; Endocrinology; Mutant","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":[0.0007787013,0.0007860104,0.0004383192,0.000820997,0.000162924,0.0004985097,0.0003611095,0.0006864802,0.0008590705],"category_scores_gemma":[0.001866963,0.0003209166,0.0003551958,0.0003205375,0.0003484165,0.0002152049,0.00033189,0.0006501848,0.0004975761],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002205855,"about_ca_system_score_gemma":0.0003969143,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00134997,"about_ca_topic_score_gemma":0.001585158,"domain_scores_codex":[0.9987108,0.0002728689,0.0001172136,0.0003293541,0.0004758928,0.0000938727],"domain_scores_gemma":[0.9986442,0.0004321931,0.000368032,0.00009314921,0.000393021,0.00006950177],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001609801,0.00009382815,0.03182565,0.0002178454,0.00003103676,0.0002444263,0.0001868685,0.0005548671,0.9471029,0.000163508,0.0001528745,0.01926516],"study_design_scores_gemma":[0.00004271608,0.001456707,0.08385751,0.00009939424,0.0001354121,0.003566562,0.0004609586,0.01240719,0.8910579,0.0003332179,0.006495461,0.00008692127],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9137493,0.002615305,0.07871289,0.0002751107,0.0001231668,0.0003630543,0.001371555,0.00048587,0.002303718],"genre_scores_gemma":[0.895436,0.001120811,0.09818073,0.0002509502,0.00003599823,0.0003336941,0.001772078,0.0000498971,0.00281984],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00134997,"threshold_uncertainty_score":0.004118264,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01714498155259564,"score_gpt":0.2580954305818317,"score_spread":0.2409504490292361,"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."}}