{"id":"W4318480880","doi":"10.3390/genes14020359","title":"Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Toronto Western Hospital","funders":"National Center for Advancing Translational Sciences; University of Toronto","keywords":"Phenotype; Biology; Gene; Genetics; Molecular biology","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":[0.0001064175,0.001218199,0.0003951853,0.0009833468,0.0005447504,0.0004614154,0.0004224187,0.001324003,0.00204461],"category_scores_gemma":[0.0006318471,0.000243695,0.0004076716,0.000470348,0.0005158822,0.000275481,0.0005354673,0.0005466255,0.0003286147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002162909,"about_ca_system_score_gemma":0.0002536105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001446467,"about_ca_topic_score_gemma":0.0012659,"domain_scores_codex":[0.9998084,0.00001636013,0.00001931198,0.00007538675,0.00004129766,0.00003931982],"domain_scores_gemma":[0.9998127,0.00007379217,0.00004146122,0.00001172836,0.00001225142,0.00004804771],"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":[0.0003023861,0.00005183859,0.06566833,0.000114619,0.00003751483,0.8110048,0.0007083105,0.0002562107,0.1146909,0.00044129,0.0003302626,0.00639366],"study_design_scores_gemma":[0.00002862327,0.0001626617,0.05734238,0.00002859166,0.00006571902,0.9195763,0.000193841,0.0007904863,0.0199106,0.0002508269,0.001627213,0.00002270929],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974427,0.0003121871,0.0007740983,0.0001702115,0.00001198435,0.00002108852,0.0002235392,0.00003573436,0.001008407],"genre_scores_gemma":[0.9981853,0.0002051938,0.001019663,0.00006414214,0.0000201822,0.000009348129,0.0001591415,0.00001219728,0.0003246258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00204461,"threshold_uncertainty_score":0.006839931,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01414083957125933,"score_gpt":0.2261736379295354,"score_spread":0.2120327983582761,"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."}}