{"id":"W2462271786","doi":"10.1111/jdv.13787","title":"Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families","year":2016,"lang":"en","type":"article","venue":"Journal of the European Academy of Dermatology and Venereology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministry of Higher Education and Scientific Research","keywords":"Genetics; Genetic heterogeneity; Mutation; Medicine; Founder effect; Pedigree chart; Anticipation (artificial intelligence); Palmoplantar keratoderma; Phenotype; Genotype; Biology; Gene; Haplotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008233758,0.00009925415,0.00031561,0.0001012362,0.00002483508,0.00000157779,0.0002699466,0.0002505841,0.000004067963],"category_scores_gemma":[0.0003818642,0.00005848198,0.00008723224,0.000062601,0.001787316,0.000005179611,0.0002213185,0.0002626382,8.033123e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002129754,"about_ca_system_score_gemma":0.00004852085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000137194,"about_ca_topic_score_gemma":0.000001756944,"domain_scores_codex":[0.9974257,0.001602204,0.0005993752,0.0001533325,0.00006687548,0.0001525042],"domain_scores_gemma":[0.9992644,0.0001192688,0.0003837404,0.000113486,0.00005199889,0.00006712527],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001314846,0.00001831906,0.6194611,0.00001854733,0.00006956728,0.00005362586,0.00003185983,6.882509e-7,0.3768209,0.000610064,0.0002529712,0.002530928],"study_design_scores_gemma":[0.00313232,0.0002247079,0.5526024,0.0001473114,0.00006567946,0.008776825,0.000101037,0.000007178936,0.4257677,0.002442301,0.006563359,0.0001691368],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909788,0.003818241,0.0001035763,0.004425395,0.00007805628,0.00005757891,0.000002676749,0.000001079713,0.0005346322],"genre_scores_gemma":[0.9968101,0.002482029,0.0002348488,0.0003503211,0.00005771678,4.600645e-7,7.794896e-7,0.000009560808,0.00005417469],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06685866,"threshold_uncertainty_score":0.6585441,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01945446268932497,"score_gpt":0.293387475371954,"score_spread":0.273933012682629,"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."}}