{"id":"W2993542180","doi":"10.1016/j.ejmg.2019.103822","title":"A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder","year":2019,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Scottish Rite Charitable Foundation of Canada; Canadian Institutes of Health Research; Montana Department of Transportation; Pan-Massachusetts Challenge","keywords":"Missense mutation; Biology; Gene isoform; Exon; Phenotype; Gene; Genetics; Endoplasmic reticulum; Molecular biology; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00176473,0.0002798105,0.0006260197,0.0002716042,0.00004618092,0.00004491623,0.00107487,0.0001627493,0.0005601648],"category_scores_gemma":[0.00155863,0.0001953449,0.0002127924,0.0008944304,0.0001831686,0.00004093727,0.0005914349,0.001140089,0.00009231869],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000131744,"about_ca_system_score_gemma":0.0008961668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004595484,"about_ca_topic_score_gemma":0.00001729041,"domain_scores_codex":[0.9938375,0.0008477397,0.001330831,0.0003487728,0.003132068,0.0005030337],"domain_scores_gemma":[0.9975271,0.00009717805,0.0003669325,0.0006766784,0.0006561361,0.0006760056],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01036755,0.007695518,0.6964942,0.002425442,0.001352974,0.08546773,0.004228805,0.002842295,0.1027854,0.0001688018,0.001294968,0.08487628],"study_design_scores_gemma":[0.01214431,0.01078836,0.9456956,0.003042879,0.0002035348,0.007797793,0.0007296246,0.002474993,0.006068675,0.00004658861,0.0104508,0.0005568786],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988901,0.003110227,0.001202587,0.003499016,0.0004153498,0.002632119,0.000008910596,0.000009885127,0.0002209453],"genre_scores_gemma":[0.9973078,0.0002807893,0.001113371,0.0009154357,0.0001001387,0.00001211566,0.000004717272,0.00008223211,0.0001834254],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2492013,"threshold_uncertainty_score":0.7965932,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01495591712973705,"score_gpt":0.2976374072052176,"score_spread":0.2826814900754806,"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."}}