{"id":"W4400745925","doi":"10.3389/fmed.2024.1402577","title":"Case report: Variability in clinical manifestations within a family with incontinentia pigmenti","year":2024,"lang":"en","type":"article","venue":"Frontiers in Medicine","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministry of Health of the Russian Federation; Ministry of Health, British Columbia","keywords":"Incontinentia pigmenti; Dermatology; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003270014,0.001132132,0.0007364394,0.001397636,0.001701329,0.0008147958,0.0005773561,0.001323508,0.001986163],"category_scores_gemma":[0.002853051,0.0004800086,0.0004618895,0.0009228161,0.001148475,0.0007071097,0.001107731,0.0008890401,0.0005276728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004138103,"about_ca_system_score_gemma":0.0003321936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001468699,"about_ca_topic_score_gemma":0.001518953,"domain_scores_codex":[0.9993781,0.00008300572,0.00005972602,0.0002868312,0.00006401229,0.0001284376],"domain_scores_gemma":[0.9987,0.0004092828,0.0003512639,0.0001492135,0.00007785644,0.0003124],"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":[0.0000755505,0.0000954182,0.08616777,0.00004169399,0.00002809105,0.9022582,0.001723792,0.0001172799,0.003457287,0.0001825732,0.0005157236,0.005336676],"study_design_scores_gemma":[0.000004187382,0.00004974406,0.0161298,0.0000071267,0.00001364776,0.9824795,0.0003367346,0.00006443785,0.0003329751,0.00008362658,0.000486443,0.0000118041],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933254,0.001122298,0.002045457,0.0003827875,0.00006065905,0.00005443399,0.0001739774,0.00008168828,0.002753359],"genre_scores_gemma":[0.9980718,0.0003292997,0.0008426869,0.0001218576,0.00007122278,0.00001507636,0.00007230045,0.00001609289,0.0004596307],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001986163,"threshold_uncertainty_score":0.006644428,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01273570622945555,"score_gpt":0.2999488062423923,"score_spread":0.2872131000129367,"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."}}