{"id":"W2060591270","doi":"10.1016/j.ymgme.2013.06.008","title":"Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels","year":2013,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":64,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Carol Ann Foundation; National Center for Research Resources; National Institute of General Medical Sciences; National Institutes of Health; Bennett Foundation; Jacob Randall Foundation for Morquio","keywords":"Keratan sulfate; Missense mutation; Genotype; Allelic heterogeneity; Mucopolysaccharidosis; Nonsense mutation; Phenotype; Allele; Sulfatase; Medicine; Urine; Internal medicine; Genetics; Biology; Immunology; Gene; Biochemistry","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":[0.0006126387,0.0007515781,0.0005745663,0.001240017,0.0005423878,0.0006473094,0.0004171817,0.0008391472,0.003621654],"category_scores_gemma":[0.002911771,0.0003985541,0.0004107614,0.001177778,0.0006891993,0.0005210044,0.0004866869,0.0006137742,0.0005351867],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000176852,"about_ca_system_score_gemma":0.0003149011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001006812,"about_ca_topic_score_gemma":0.0007387168,"domain_scores_codex":[0.999405,0.0002193374,0.0001004279,0.0001239273,0.00009554148,0.00005578787],"domain_scores_gemma":[0.9974949,0.001142117,0.0006884617,0.0001477854,0.0001567428,0.0003699821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002130433,0.0001693132,0.9720448,0.0000352683,0.0001945689,0.003613806,0.0002286632,0.000175558,0.01739344,0.0001628347,0.0002188949,0.00363251],"study_design_scores_gemma":[0.00003594127,0.0005281289,0.9839306,0.00001611972,0.0001441428,0.01142642,0.0002723687,0.0007549631,0.002250516,0.0002540947,0.0003662133,0.00002056926],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984967,0.0003067951,0.0002799293,0.00008990595,0.00001459797,0.000005332838,0.0002326885,0.0000101983,0.0005638509],"genre_scores_gemma":[0.9989802,0.00009752451,0.0002991242,0.0000248076,0.00002075029,0.000006028235,0.00018336,0.00001111506,0.0003770075],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003621654,"threshold_uncertainty_score":0.01211566,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01959111409953611,"score_gpt":0.2700411073722812,"score_spread":0.250449993272745,"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."}}