{"id":"W2153310881","doi":"10.1002/ajmg.a.35879","title":"Recurrent agnathia–otocephaly caused by DNA replication slippage in <i>PRRX1</i>","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Fondation CHU de Québec; Université Laval","keywords":"Genetics; Frameshift mutation; Proband; Mutation; Biology; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0009803942,0.0001872587,0.0003710213,0.00007925048,0.00004139145,0.00002401088,0.0005006349,0.0001300449,0.00008360753],"category_scores_gemma":[0.0007744069,0.0001618183,0.0001190306,0.0002320366,0.0003558341,0.000004827656,0.000123788,0.0003244058,0.00002133872],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003539731,"about_ca_system_score_gemma":0.0002611497,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000351066,"about_ca_topic_score_gemma":0.000027913,"domain_scores_codex":[0.9976263,0.0002071936,0.0007525766,0.000328689,0.0007460238,0.0003392129],"domain_scores_gemma":[0.9984553,0.0000579394,0.0004677756,0.0004146651,0.0002376401,0.0003666812],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009239023,0.0005543791,0.01234834,0.00003027165,0.000224993,0.00004807355,0.0006297814,0.00003958971,0.5867261,0.0000106056,0.132362,0.2669335],"study_design_scores_gemma":[0.004440609,0.008037267,0.01960655,0.0005137146,0.0001291506,0.0002686387,0.002189155,0.0006214444,0.2980446,0.0002307336,0.6647339,0.001184257],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991813,0.00385154,0.001062253,0.002642805,0.0002542079,0.0002095096,0.000008359419,0.000005791542,0.0001525418],"genre_scores_gemma":[0.9938581,0.003735581,0.0004978318,0.001337725,0.0003948412,0.00003971121,0.00002139531,0.00002772581,0.00008706244],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5323719,"threshold_uncertainty_score":0.659876,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01255423894735931,"score_gpt":0.283036744826946,"score_spread":0.2704825058795867,"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."}}