{"id":"W2041554964","doi":"10.1371/journal.pone.0033087","title":"Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts","year":2012,"lang":"en","type":"article","venue":"PLoS ONE","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"National Natural Science Foundation of China; Northwestern University","keywords":"Missense mutation; Mutant; Nonsense mutation; Biology; Transfection; Mutation; Genetics; Leukoencephalopathy; HEK 293 cells; Mutant protein; Wild type; Molecular biology; Endoplasmic reticulum; Leukodystrophy; Gene; Medicine; Pathology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002398105,0.0005068985,0.0003659427,0.001113373,0.0006609398,0.0002677265,0.0002154117,0.0003279984,0.001316599],"category_scores_gemma":[0.0006059573,0.0001654589,0.0002946935,0.0007679841,0.0004159985,0.0001600004,0.0001885379,0.0001813493,0.0002183313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004244029,"about_ca_system_score_gemma":0.0002555124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006789096,"about_ca_topic_score_gemma":0.004455288,"domain_scores_codex":[0.9998547,0.0000198565,0.00001979535,0.00004197135,0.00003508029,0.00002861756],"domain_scores_gemma":[0.9998253,0.00005505663,0.00003610375,0.0000137405,0.00002856407,0.0000411797],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001488971,0.0001552177,0.4861813,0.0001842124,0.000135162,0.0297359,0.004792259,0.0005252954,0.4604038,0.0004017975,0.0002664727,0.01572955],"study_design_scores_gemma":[0.00007282237,0.0004278641,0.9237227,0.00001495047,0.0001773019,0.02797517,0.001137208,0.001274006,0.04339283,0.0002378352,0.001532908,0.00003437533],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995571,0.0001041782,0.000075868,0.00001738917,0.000001708631,0.000003450634,0.00004753302,0.000003658267,0.0001890849],"genre_scores_gemma":[0.9995244,0.00009288608,0.00009776635,0.00001781667,0.000003587899,0.000003948142,0.00009063354,0.000003561289,0.0001655043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006789096,"threshold_uncertainty_score":0.01349914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02485150252842026,"score_gpt":0.2445229375481913,"score_spread":0.2196714350197711,"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."}}