{"id":"W4297348680","doi":"10.3390/genes13101743","title":"Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Women and Children's Health Research Institute","keywords":"Exome sequencing; Missense mutation; Mucopolysaccharidosis; Genetics; Medicine; Lysosomal storage disease; Exome; Phenotype; Population; Disease; Biology; Pediatrics; Bioinformatics; Pathology; Gene","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":[0.000160478,0.0006465667,0.0002844293,0.0007785539,0.0009865757,0.0005630997,0.0002608307,0.001037347,0.002715378],"category_scores_gemma":[0.0007971849,0.0001875668,0.0002623436,0.0006343155,0.0004523581,0.0001917731,0.0004980678,0.0006205675,0.000429963],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003416552,"about_ca_system_score_gemma":0.000309233,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006433187,"about_ca_topic_score_gemma":0.007638721,"domain_scores_codex":[0.9997773,0.00001875311,0.00002398184,0.00009441645,0.00005156561,0.00003401353],"domain_scores_gemma":[0.9997007,0.0001117418,0.00005569071,0.00001555496,0.00003207239,0.00008431233],"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":[0.0002420993,0.0001110457,0.1093958,0.00007327242,0.00007257364,0.8134207,0.003032553,0.0005016677,0.05341323,0.0006948431,0.001867074,0.01717516],"study_design_scores_gemma":[0.0000348026,0.0003346873,0.2298359,0.00007724256,0.0001028046,0.7494308,0.001828043,0.001260244,0.008799918,0.0005717975,0.007676387,0.00004731804],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955558,0.0003174311,0.0009621652,0.0004525343,0.00004974359,0.00002722593,0.0009097309,0.00002322439,0.001702093],"genre_scores_gemma":[0.9976873,0.0002318849,0.0006806945,0.0002295752,0.00002539473,0.000005982145,0.0002305115,0.00001027901,0.000898267],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006433187,"threshold_uncertainty_score":0.01279151,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05679285416193252,"score_gpt":0.3168040267635376,"score_spread":0.2600111726016051,"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."}}