{"id":"W2111304184","doi":"10.1016/j.ajhg.2011.06.006","title":"Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability","year":2011,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; Canadian Institutes of Health Research; National Alliance for Research on Schizophrenia and Depression","keywords":"Genetics; Missense mutation; Locus (genetics); Biology; RefSeq; Sanger sequencing; Gene; Genotyping; Nonsense mutation; Disease gene identification; Genome; Mutation; Genotype; Exome sequencing","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":[0.0001907728,0.002613772,0.0005495339,0.001373769,0.0006181343,0.000395648,0.0004987353,0.001149198,0.00140333],"category_scores_gemma":[0.0009153883,0.0003209726,0.0002615569,0.0007362082,0.000854611,0.0002300645,0.0006003621,0.0007260363,0.0007102099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005182768,"about_ca_system_score_gemma":0.000322297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001952159,"about_ca_topic_score_gemma":0.002057344,"domain_scores_codex":[0.9997703,0.00003428873,0.00002472703,0.00004881253,0.00009040668,0.00003138347],"domain_scores_gemma":[0.9995303,0.0001311109,0.0001952025,0.00001226547,0.0000243796,0.000106704],"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":[0.002792095,0.0003576461,0.06903124,0.0005049466,0.0004187092,0.2936401,0.001018073,0.002590103,0.5758811,0.003050576,0.007906769,0.04280874],"study_design_scores_gemma":[0.0004087315,0.0008249336,0.2401857,0.0002457216,0.0006178868,0.5499034,0.0007619097,0.006555353,0.1762104,0.003603942,0.02052977,0.0001522678],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881886,0.00392,0.00209906,0.0007221634,0.0001322153,0.00002867757,0.0006023204,0.0002749944,0.004032022],"genre_scores_gemma":[0.9954998,0.000896663,0.001101416,0.00008477347,0.00005607375,0.00001328106,0.0003037656,0.00003751775,0.002006608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002613772,"threshold_uncertainty_score":0.004694641,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02637303951575359,"score_gpt":0.2793428680223323,"score_spread":0.2529698285065787,"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."}}