{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001182526,0.0001176148,0.0001283029,0.00004838358,0.00002494294,0.00001359647,0.00007831938,0.00007810133,0.00001525133],"category_scores_gemma":[0.00001080517,0.0001042544,0.00002531029,0.00008473859,0.000054592,0.000004249193,0.00002073059,0.00006883983,0.000001567511],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001733433,"about_ca_system_score_gemma":0.0000270004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001531313,"about_ca_topic_score_gemma":0.001718949,"domain_scores_codex":[0.9992158,0.00006636111,0.0001505645,0.0002904611,0.00008119884,0.0001955961],"domain_scores_gemma":[0.9996786,0.000008906967,0.00002999528,0.000207594,0.00001883235,0.00005606668],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003366556,0.001221473,0.7650622,0.0002164591,0.0001066801,0.00009091612,0.005599341,0.008795242,0.06563967,0.0006589196,0.0004008553,0.1518717],"study_design_scores_gemma":[0.001804132,0.00008318139,0.9861937,0.00001712246,0.00001282313,0.00001213796,0.0002271767,0.0001036754,0.002928795,0.0001749586,0.008249553,0.0001927859],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977859,0.000425874,0.0003132109,0.0002163264,0.00002998968,0.0001821157,0.00001631789,0.000004932765,0.001025331],"genre_scores_gemma":[0.9991816,0.00006384921,0.0002603529,0.0001319605,0.00005546977,0.00002845568,0.00008564264,0.00001568709,0.000176972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2211315,"threshold_uncertainty_score":0.4251372,"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."}}