{"id":"W1993705587","doi":"10.1002/humu.9190","title":"Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"Metachromatic leukodystrophy; Arylsulfatase A; Biology; Genetics; Missense mutation; Frameshift mutation; Mutation; Allele; Leukodystrophy; Molecular biology; Gene; Compound heterozygosity; Gene mutation; Pathology; Medicine; Disease","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002334691,0.0001211515,0.0002218749,0.0003534322,0.00007455482,0.00002111018,0.00006447792,0.000048955,0.00008793226],"category_scores_gemma":[0.0002110306,0.0001111993,0.00004144249,0.0005269622,0.00009106571,0.0001966462,0.0000121299,0.0001230233,0.00001649016],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001329471,"about_ca_system_score_gemma":0.00009385309,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006931491,"about_ca_topic_score_gemma":0.00002892161,"domain_scores_codex":[0.9985334,0.00007386007,0.00046865,0.0002387715,0.0005102153,0.0001751645],"domain_scores_gemma":[0.9991087,0.00003169694,0.0002135791,0.000263845,0.0003139863,0.00006813631],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006933872,0.007072906,0.4510719,0.0009515361,0.0003998172,0.00008344529,0.005467134,0.008808533,0.5169473,0.006401551,0.00005264175,0.002049785],"study_design_scores_gemma":[0.006010436,0.0004424643,0.9687028,0.00006302404,0.0001092467,0.000008266959,0.000259482,0.001477452,0.02235508,0.00044826,0.000002646645,0.0001208677],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919971,0.00003969795,0.006819867,0.00003544451,0.00001803268,0.0008471842,0.00002796114,0.00002319065,0.0001915682],"genre_scores_gemma":[0.9966254,7.931345e-7,0.00241695,0.00001777118,0.000007538298,0.00007533144,0.0007585839,0.00002310907,0.00007456333],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5176308,"threshold_uncertainty_score":0.4534576,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0220077122552132,"score_gpt":0.2935146377480378,"score_spread":0.2715069254928246,"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."}}