{"id":"W4297254224","doi":"10.1002/ajmg.c.31999","title":"Pallister‐Hall syndrome, <scp>GLI3</scp>, and kidney malformation","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"GLI3; Polydactyly; Sonic hedgehog; Hypoplasia; Phenotype; Biology; Medicine; Genetics; Pathology; Anatomy; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.003910765,0.0003489673,0.0006867173,0.0002373382,0.0001987729,0.00003312455,0.001131647,0.0002928617,0.0001687791],"category_scores_gemma":[0.004744513,0.0003369115,0.0001652455,0.0004655056,0.001150735,0.000005952185,0.001052463,0.001192818,0.000003749758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007449398,"about_ca_system_score_gemma":0.001032266,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001073414,"about_ca_topic_score_gemma":0.00001212568,"domain_scores_codex":[0.993637,0.0007160773,0.001360026,0.0004511448,0.003169801,0.0006659609],"domain_scores_gemma":[0.9969418,0.0003980224,0.000671984,0.0004034374,0.0001810825,0.001403641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003624073,0.002225353,0.1857025,0.0004422529,0.001323465,0.006387911,0.007519768,0.003297662,0.02040946,0.00009238312,0.1378554,0.6343815],"study_design_scores_gemma":[0.004747329,0.01193036,0.01222577,0.0008762483,0.000237528,0.01199334,0.009139656,0.005733536,0.006178337,0.0002517415,0.9359717,0.0007144889],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.979062,0.01586828,0.001916288,0.001908685,0.0008139643,0.0001758468,0.00002957862,0.000009329489,0.0002160401],"genre_scores_gemma":[0.9440948,0.04537049,0.004370874,0.005313466,0.000539797,0.00003466956,0.00006017732,0.00006735364,0.0001483856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7981163,"threshold_uncertainty_score":0.9999083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01101878325903023,"score_gpt":0.2746038768716825,"score_spread":0.2635850936126523,"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."}}