{"id":"W2081943094","doi":"10.1016/j.ymgme.2004.08.009","title":"Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis","year":2004,"lang":"en","type":"review","venue":"Molecular Genetics and Metabolism","topic":"Kidney Stones and Urolithiasis Treatments","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; Children's & Women's Health Centre of British Columbia","funders":"","keywords":"Missense mutation; Primary hyperoxaluria; Biology; Glyoxylate cycle; Genotype; Genetics; Allele; Allelic heterogeneity; Phenotype; Genetic heterogeneity; Calcium oxalate; Gene; Kidney; Endocrinology; Biochemistry; Enzyme; Urinary system","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":[0.0006761441,0.0007472979,0.0022531,0.001611981,0.0001340929,0.0007423207,0.0009736355,0.001218189,0.001696356],"category_scores_gemma":[0.001207377,0.0002431835,0.0004765515,0.001864749,0.000400764,0.0007349254,0.0003229438,0.000792916,0.0007307498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005182679,"about_ca_system_score_gemma":0.0009616191,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001817763,"about_ca_topic_score_gemma":0.002121339,"domain_scores_codex":[0.9997494,0.00005822394,0.00004261103,0.00005461981,0.00007701893,0.00001814714],"domain_scores_gemma":[0.9992496,0.0004955029,0.0001047451,0.00001518326,0.0001024027,0.00003250535],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000229689,0.00007607959,0.002848659,0.009046728,0.0003552495,0.003367126,0.00004704153,0.0004579845,0.001787975,0.001318254,0.01896372,0.9615015],"study_design_scores_gemma":[0.0002925791,0.0003234376,0.02074184,0.01002532,0.002230725,0.05904263,0.0003689172,0.0005790961,0.002259817,0.006114949,0.897927,0.00009368538],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004150634,0.9982759,0.0002197264,0.0004418404,0.0001186897,0.000002018567,0.00001586844,0.000005688434,0.000505142],"genre_scores_gemma":[0.003100905,0.9956852,0.0003405509,0.0002422691,0.0003164293,0.000003039572,0.00004130565,0.00000129496,0.0002689204],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.0022531,"threshold_uncertainty_score":0.005674839,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02699675885978382,"score_gpt":0.3339125820497479,"score_spread":0.3069158231899641,"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."}}