{"id":"W4396890854","doi":"10.3390/genes15050619","title":"Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital","funders":"","keywords":"Exome sequencing; Intellectual disability; Phenotype; Gene; Genetics; Biology","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":[0.0001680375,0.001286109,0.0004751809,0.002116808,0.0009033366,0.0008057745,0.0007351188,0.001504834,0.003297297],"category_scores_gemma":[0.001699975,0.0004270658,0.0003715972,0.001200991,0.0008120129,0.0004049082,0.001630513,0.0006916724,0.0006085971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005668925,"about_ca_system_score_gemma":0.0004120242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002514544,"about_ca_topic_score_gemma":0.002138228,"domain_scores_codex":[0.9995658,0.00003276235,0.00003875982,0.0001423241,0.0001307088,0.00008963852],"domain_scores_gemma":[0.9996085,0.0000716898,0.0001240375,0.0000330451,0.00002985601,0.0001328467],"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":[0.0002532326,0.00005981452,0.06625462,0.0001267338,0.00005715739,0.8943178,0.0007839104,0.0002651661,0.01944607,0.001869022,0.001692556,0.01487398],"study_design_scores_gemma":[0.00002522997,0.00008085302,0.04634979,0.00002186093,0.00003130445,0.9484237,0.0001534267,0.0002863421,0.00214778,0.0006170371,0.001848068,0.00001446037],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988103,0.001123907,0.001024638,0.000363735,0.00003436334,0.00007562923,0.000414464,0.000116634,0.008743688],"genre_scores_gemma":[0.9974883,0.0004786925,0.0008128007,0.00008112692,0.00007010846,0.00002540381,0.0002054057,0.00001444005,0.0008236992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003297297,"threshold_uncertainty_score":0.01103055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01669340878314101,"score_gpt":0.279991185178286,"score_spread":0.263297776395145,"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."}}