{"id":"W1594586402","doi":"10.1002/mus.24224","title":"Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood","year":2014,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University; McGill University and Génome Québec Innovation Centre; Montreal Children's Hospital; Montreal Neurological Institute and Hospital","funders":"","keywords":"Missense mutation; Atrophy; Sensorineural hearing loss; Hearing loss; Exome sequencing; Medicine; Global developmental delay; Sensory loss; Weakness; Exome; Riboflavin; Audiology; Muscle atrophy; Pediatrics; Phenotype; Genetics; Pathology; Biology; Anatomy; Surgery; Gene","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":[0.0001675735,0.001066238,0.0003490191,0.0009032867,0.0007057297,0.0003545555,0.0002723023,0.0005317053,0.003367706],"category_scores_gemma":[0.0005859045,0.0002148572,0.0002344001,0.0006697065,0.0005395752,0.0002527859,0.0004921045,0.0003661606,0.000304156],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000502983,"about_ca_system_score_gemma":0.0006736295,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007674774,"about_ca_topic_score_gemma":0.01060962,"domain_scores_codex":[0.9997901,0.00001554835,0.00001866332,0.000055057,0.00003987348,0.0000806665],"domain_scores_gemma":[0.9997042,0.00006696441,0.00009255066,0.0000146735,0.00003973466,0.00008187227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003164419,0.0001344596,0.4342092,0.0002066146,0.0001080362,0.5013471,0.002059422,0.0005358523,0.04002833,0.0006493127,0.001482657,0.01892259],"study_design_scores_gemma":[0.0000325259,0.0001884753,0.3735942,0.000107138,0.0001011643,0.6077874,0.0008868229,0.0004179861,0.01255311,0.0002322951,0.004072686,0.00002633884],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968087,0.0004880949,0.0003294383,0.0001353777,0.00001365725,0.00001293468,0.0001849762,0.00004142903,0.00198534],"genre_scores_gemma":[0.998561,0.0002547131,0.000423781,0.00005634083,0.00001195981,0.000003843571,0.0001573908,0.00001126072,0.0005198058],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007674774,"threshold_uncertainty_score":0.01526022,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004708253833620037,"score_gpt":0.2079532772967659,"score_spread":0.2032450234631458,"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."}}