{"id":"W2138829076","doi":"10.1002/humu.20215","title":"<i>SALL4</i>mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders","year":2005,"lang":"en","type":"article","venue":"Human Mutation","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":123,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; Mount Sinai Hospital; SickKids Foundation","funders":"","keywords":"Biology; Genetics; Exon; Zinc finger; Haploinsufficiency; Nonsense mutation; Gene; Locus (genetics); Stop codon; Phenotype; Missense mutation; Transcription factor","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":[0.00009658022,0.0005479794,0.000229876,0.0008139415,0.0003968904,0.0002991291,0.0002930558,0.0006278017,0.003617165],"category_scores_gemma":[0.0002511897,0.0001398761,0.0003543005,0.000378258,0.0004000339,0.0001526152,0.0003809762,0.0002148605,0.0008037592],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003108822,"about_ca_system_score_gemma":0.0002056608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001292215,"about_ca_topic_score_gemma":0.002421675,"domain_scores_codex":[0.9999021,0.00001294723,0.00001510607,0.00001876246,0.00003111117,0.00001987438],"domain_scores_gemma":[0.9999127,0.00001170805,0.00003823259,0.000002637392,0.000007540501,0.00002713777],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009370047,0.0001584554,0.09392461,0.0004723151,0.0002324054,0.2100519,0.0006752951,0.0008844325,0.6100176,0.002372421,0.005660411,0.07461318],"study_design_scores_gemma":[0.0004197018,0.0005295863,0.3995531,0.0003218664,0.0006614929,0.3933388,0.0006039016,0.00300245,0.1292479,0.00200573,0.0701901,0.0001253771],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9847639,0.002039025,0.001974916,0.0003710276,0.00007973613,0.00006437571,0.0008070123,0.0002813704,0.009618573],"genre_scores_gemma":[0.99065,0.00102063,0.002867873,0.0003917222,0.00005985409,0.00004494097,0.0007996861,0.00005197184,0.004113313],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003617165,"threshold_uncertainty_score":0.01210064,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00834734090413247,"score_gpt":0.2478719280638269,"score_spread":0.2395245871596945,"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."}}