{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001036592,0.001577119,0.0007023397,0.0009322047,0.0009642719,0.0005285952,0.0003711887,0.001169755,0.002792272],"category_scores_gemma":[0.0006798675,0.000379809,0.0004470712,0.0005923446,0.0008250047,0.0005656508,0.000740902,0.0009599901,0.0004990192],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005281321,"about_ca_system_score_gemma":0.0003817398,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002147621,"about_ca_topic_score_gemma":0.002365612,"domain_scores_codex":[0.9997563,0.00001708583,0.00002234833,0.00008856242,0.00004319947,0.00007249634],"domain_scores_gemma":[0.999606,0.00008574651,0.0001565923,0.00001957823,0.0000248468,0.0001072143],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006821765,0.00001935777,0.008957149,0.00005614306,0.00001737903,0.9795204,0.00019781,0.0000917694,0.00830512,0.0002096244,0.0004103459,0.002146701],"study_design_scores_gemma":[0.00001577773,0.00005783226,0.01897884,0.00003080551,0.00002467474,0.9769593,0.0001193835,0.00017948,0.002269354,0.0001206279,0.001229652,0.00001440836],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893275,0.002237294,0.00112175,0.0004779567,0.0001298875,0.0000797715,0.000548426,0.0001618783,0.005915482],"genre_scores_gemma":[0.9973245,0.0007471384,0.0007022566,0.0001266442,0.00009672125,0.00001503717,0.000136602,0.00001815286,0.0008328424],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002792272,"threshold_uncertainty_score":0.009341061,"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."}}