{"id":"W2925136870","doi":"10.1159/000498835","title":"Torpedo Maculopathy Associated with NEXMIF Mutation","year":2019,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Frameshift mutation; Epilepsy; Strabismus; Intellectual disability; Medicine; Mutation; Genetics; Maculopathy; Ophthalmology; Biology; Endocrinology; Gene; Psychiatry","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":[0.0000870729,0.0001957169,0.0001719017,0.00005443616,0.00004389565,0.00001778638,0.000178652,0.0001709615,0.00009399415],"category_scores_gemma":[0.00003841106,0.0001883059,0.00006539183,0.0001265693,0.00006265122,0.000002695073,0.00009307642,0.00008883976,0.0001119998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001601027,"about_ca_system_score_gemma":0.00007265434,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009031241,"about_ca_topic_score_gemma":0.00002395693,"domain_scores_codex":[0.9988034,0.0000940541,0.0001651618,0.00046562,0.0001524375,0.0003193584],"domain_scores_gemma":[0.9994583,0.000007224617,0.00008113505,0.000313017,0.00006799376,0.00007231078],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001007973,0.0001565277,0.007133782,0.00001688014,0.0001893849,0.001300377,0.00005637836,0.0006220004,0.9889123,0.0002861007,0.0003576045,0.0008678757],"study_design_scores_gemma":[0.01113972,0.01255549,0.3874561,0.0001234176,0.0002558644,0.01455259,0.000355001,0.0007025602,0.5461476,0.001603882,0.02169719,0.003410569],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945866,0.0002056842,0.001273928,0.0001051807,0.0001713921,0.0002842934,0.000008037151,0.00002122955,0.003343621],"genre_scores_gemma":[0.9974214,0.00001681057,0.000450929,0.0007422534,0.000005676512,0.00002730322,0.0003441166,0.00004577951,0.0009457253],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4427646,"threshold_uncertainty_score":0.7678891,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003459344892884997,"score_gpt":0.1928686766327136,"score_spread":0.1894093317398287,"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."}}