{"id":"W4400587806","doi":"10.15690/vsp.v23i3.2759","title":"Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case","year":2024,"lang":"en","type":"article","venue":"Вопросы современной педиатрии","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute","funders":"","keywords":"Photophobia; Ichthyosis; Dermatology; Medicine; Ophthalmology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003775466,0.0002731875,0.0002689126,0.0001055998,0.0001401567,0.00016118,0.0001514737,0.0003250301,0.0002277572],"category_scores_gemma":[0.0001660325,0.0002515598,0.0002487735,0.0003238454,0.0001424598,0.00001343575,0.0001767944,0.0001912785,0.0001944987],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000171737,"about_ca_system_score_gemma":0.0001655713,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006053439,"about_ca_topic_score_gemma":0.00003917944,"domain_scores_codex":[0.9981495,0.0001261904,0.0004641274,0.000738157,0.0001897228,0.0003323239],"domain_scores_gemma":[0.9988889,0.00005188776,0.00006635341,0.0005287643,0.00008885589,0.0003752622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001785796,0.001738118,0.2117448,0.001326387,0.003020727,0.04736463,0.0004787841,0.000180626,0.1550053,0.005031553,0.4472843,0.125039],"study_design_scores_gemma":[0.002872343,0.001511757,0.06062871,0.0001381169,0.0006989358,0.01687051,0.0002208992,0.003252069,0.005275722,0.0006833691,0.9062105,0.001637083],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9841329,0.01189165,0.0002999675,0.0003697734,0.000916526,0.000295519,0.00005298868,0.00009685376,0.001943851],"genre_scores_gemma":[0.9926641,0.0008849209,0.0006215729,0.0006481647,0.0003861754,0.00002110066,0.0001364263,0.00005583527,0.004581708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4589262,"threshold_uncertainty_score":0.9999937,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01533154842258653,"score_gpt":0.3115036755909292,"score_spread":0.2961721271683426,"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."}}