{"id":"W2169987539","doi":"10.1002/ajmg.a.35202","title":"Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Hospital for Sick Children; University of Guelph; Sunnybrook Health Science Centre; North York General Hospital; Toronto Western Hospital; University of Toronto","funders":"National Health and Medical Research Council; Natural Sciences and Engineering Research Council of Canada","keywords":"Compound heterozygosity; Exon; Mutation; Phenotype; Genetics; Heterozygote advantage; Endocrinology; Biology; Internal medicine; Gene; Medicine; Allele","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002621466,0.001086814,0.0005130649,0.001337925,0.0003431282,0.0005226685,0.0004487844,0.0008642371,0.001869025],"category_scores_gemma":[0.001898606,0.0002578562,0.0003597785,0.0006366958,0.0005528042,0.0002824111,0.001219754,0.0003453205,0.0005715834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001329391,"about_ca_system_score_gemma":0.000156886,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006298747,"about_ca_topic_score_gemma":0.0006797804,"domain_scores_codex":[0.9994892,0.00008601396,0.00007089622,0.0001502478,0.0001117082,0.00009182276],"domain_scores_gemma":[0.9994061,0.0002099013,0.0001732891,0.00004666029,0.00004959904,0.0001144589],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008675914,0.0001935702,0.3040764,0.0001706795,0.0002029134,0.3587963,0.002486503,0.0005750477,0.305696,0.001006351,0.001070419,0.02485825],"study_design_scores_gemma":[0.00006168794,0.0003656061,0.2673166,0.00003313599,0.00007825651,0.7220173,0.0003368905,0.0003796725,0.007176497,0.0004742771,0.0017199,0.00004020294],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973841,0.0003334924,0.0005241036,0.00005539579,0.000009615317,0.00001728176,0.0001254115,0.00004330842,0.001507217],"genre_scores_gemma":[0.9990041,0.0001629667,0.0003022493,0.0000420832,0.00001517345,0.00001063458,0.0001600599,0.00001444259,0.0002884424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001869025,"threshold_uncertainty_score":0.006252527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009737491365235032,"score_gpt":0.260894771055447,"score_spread":0.251157279690212,"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."}}