{"id":"W2034394596","doi":"10.1002/ajmg.a.20059","title":"Bowen–Conradi syndrome: A clinical and genetic study","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Alberta Children's Hospital; McGill University Health Centre; University of Calgary","funders":"Key Laboratory of Low-grade Energy Utilization Technology and System, Chongqing University","keywords":"Kinship; Natural history; Pediatrics; Demography; Medicine; Physics; Internal medicine","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":[0.0004970874,0.000792458,0.0007058383,0.002443594,0.001990663,0.0005984859,0.0006185763,0.001292326,0.003054256],"category_scores_gemma":[0.002664955,0.0005412097,0.000312682,0.002268699,0.001322356,0.0007601061,0.0009209645,0.0008376166,0.0005482218],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004647098,"about_ca_system_score_gemma":0.001043695,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006192843,"about_ca_topic_score_gemma":0.004043002,"domain_scores_codex":[0.9994006,0.00007348519,0.00006799109,0.00017419,0.0001862783,0.0000973997],"domain_scores_gemma":[0.9991426,0.0001703771,0.000153635,0.00006695258,0.00009787899,0.000368508],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004890714,0.0009070484,0.6910613,0.00007763114,0.00008666328,0.270644,0.003232332,0.0002634179,0.01505628,0.00111493,0.0009506738,0.01611674],"study_design_scores_gemma":[0.00009979735,0.0007834283,0.4679213,0.00003106515,0.00006475057,0.5252787,0.0009612018,0.0002504774,0.0007664034,0.0003808943,0.003416732,0.00004528469],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976522,0.0004067578,0.0001533148,0.0001278191,0.000009593003,0.00004238905,0.0001457496,0.000008151015,0.001453862],"genre_scores_gemma":[0.9978817,0.0004600657,0.0004595971,0.0001047111,0.00004865889,0.00003125233,0.000214431,0.000006648056,0.0007929581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006192843,"threshold_uncertainty_score":0.01231354,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01607971907631358,"score_gpt":0.3290930180463664,"score_spread":0.3130132989700529,"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."}}