{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002236441,0.0002788758,0.0006302834,0.0001538843,0.0001202483,0.00003048159,0.0004605302,0.0004510232,0.00002989722],"category_scores_gemma":[0.002579962,0.000193613,0.0002382913,0.0004121293,0.0002619606,0.000009945762,0.0002749963,0.0006292789,0.000004019869],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000997649,"about_ca_system_score_gemma":0.0003839605,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002096075,"about_ca_topic_score_gemma":0.0000299166,"domain_scores_codex":[0.9955103,0.0004015039,0.001929829,0.0004507434,0.001288991,0.0004186185],"domain_scores_gemma":[0.9974808,0.0001793866,0.00106916,0.0005188274,0.000280492,0.0004714047],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.009553958,0.007772697,0.43683,0.001835734,0.008665438,0.0348454,0.004812052,0.08547188,0.3484554,0.0001331517,0.0336363,0.02798798],"study_design_scores_gemma":[0.0820737,0.05782112,0.4230539,0.02186594,0.00375823,0.1140572,0.002014046,0.001295975,0.1144506,0.001595654,0.1718799,0.006133791],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924261,0.005561253,0.0001797081,0.0006481539,0.0004024798,0.0004686193,0.00002085813,0.00000456191,0.0002882938],"genre_scores_gemma":[0.9942349,0.004381093,0.000427538,0.0005777618,0.00006995808,0.0000144139,0.00002238232,0.00003804311,0.0002338817],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2340048,"threshold_uncertainty_score":0.7895309,"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."}}