{"id":"W2142039491","doi":"10.1136/jmg.40.7.473","title":"Mutations at the <i>SALL4</i> locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy","year":2003,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":188,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Hospital for Sick Children","keywords":"Locus (genetics); Genetics; Phenotype; Medicine; Missense mutation; Biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001408177,0.0008214137,0.0003183111,0.00124705,0.0003118915,0.0003036776,0.0002858633,0.000343976,0.002863269],"category_scores_gemma":[0.0003989004,0.0001785746,0.0005001587,0.0005797416,0.0005097156,0.0001376911,0.0005668617,0.0001934427,0.0004592994],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002896352,"about_ca_system_score_gemma":0.0001786613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001066947,"about_ca_topic_score_gemma":0.002236415,"domain_scores_codex":[0.9998038,0.00002160825,0.00002637775,0.00003789481,0.00006138243,0.0000489012],"domain_scores_gemma":[0.9996943,0.00006415138,0.0001643361,0.00001631001,0.00001665235,0.00004413691],"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":[0.000555449,0.00007246953,0.120801,0.0001841522,0.0002105524,0.04199777,0.0003821789,0.0003251851,0.8135004,0.0004971488,0.0003088397,0.02116474],"study_design_scores_gemma":[0.0002262866,0.0006223739,0.6028941,0.00006254797,0.0004321015,0.1463279,0.0003304065,0.00135563,0.238194,0.0007707672,0.008723003,0.00006105024],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966978,0.0003268647,0.0008390702,0.0000393122,0.000005428077,0.00001959169,0.0002985997,0.00009200301,0.001681371],"genre_scores_gemma":[0.9975024,0.0002733053,0.0009783203,0.00004587287,0.000008108865,0.00001594818,0.0005133151,0.00001886402,0.0006438737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002863269,"threshold_uncertainty_score":0.009578526,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01661889395697885,"score_gpt":0.2926574417306202,"score_spread":0.2760385477736413,"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."}}