{"id":"W2107448752","doi":"10.1086/508294","title":"Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)","year":2006,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":96,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre; McGill University Health Centre; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Nursing Research; Ministerstvo Zdravotnictví Ceské Republiky; Networks of Centres of Excellence of Canada; Ministerstvo Školství, Mládeže a Tělovýchovy; Mitacs; Hospital Research Foundation; McGill University","keywords":"Frameshift mutation; Biology; Nonsense mutation; Molecular biology; Missense mutation; Genetics; Mutation; Mucopolysaccharidosis; Gene; Lysosomal storage disease; Biochemistry; Enzyme","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003717947,0.0001405199,0.0004197093,0.000368413,0.0001255773,0.00003126612,0.0003241327,0.00002676113,0.0001812946],"category_scores_gemma":[0.00005666937,0.00009992396,0.0001428741,0.0006704477,0.0005506035,0.00004516707,0.00005452999,0.0004388843,0.00002463517],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001579208,"about_ca_system_score_gemma":0.0001828105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004543935,"about_ca_topic_score_gemma":0.0001500929,"domain_scores_codex":[0.9982542,0.0001539552,0.0005571854,0.00012995,0.0005759659,0.0003287198],"domain_scores_gemma":[0.9988431,0.0001036872,0.0003910202,0.000322886,0.0002163434,0.0001229539],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009613302,0.003090278,0.72229,0.0001374666,0.0009936725,0.00694707,0.006144363,0.005525309,0.1939225,0.000439308,0.006589429,0.05295923],"study_design_scores_gemma":[0.00246579,0.004965241,0.9739702,0.0001600527,0.0003502577,0.004441978,0.00421729,0.0003676456,0.005886766,0.002309287,0.0005411623,0.0003243664],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968615,0.001185931,0.00009920719,0.001176285,0.00004664087,0.0001871187,0.000003476689,0.000009844149,0.0004300336],"genre_scores_gemma":[0.9985931,0.0001507887,0.0005372764,0.0002027242,0.0001373181,0.000005044335,0.000003603146,0.00003231209,0.0003378508],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2516802,"threshold_uncertainty_score":0.4074781,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02280090860696611,"score_gpt":0.3217389253635758,"score_spread":0.2989380167566097,"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."}}