{"id":"W2984929648","doi":"10.1016/j.ejmg.2019.103805","title":"Split hand/foot malformation associated with 20p12.1 deletion: A case report","year":2019,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Deutsche Forschungsgemeinschaft; M.S.I. Foundation","keywords":"Ectrodactyly; Penetrance; Limb development; Genetics; Exon; Biology; Medicine; Phenotype; Gene; Ectodermal dysplasia","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":[0.001072652,0.0001136085,0.0001518235,0.00004000844,0.00005898837,0.00004911055,0.000190129,0.00006773038,0.0001710448],"category_scores_gemma":[0.0001979595,0.00008387323,0.00008557025,0.00006377322,0.00008472757,0.000005428208,0.0000795684,0.0001728646,0.00002531707],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008890252,"about_ca_system_score_gemma":0.0001480389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":3.653857e-7,"about_ca_topic_score_gemma":0.00001305691,"domain_scores_codex":[0.9986201,0.0001590561,0.0004448372,0.0001270864,0.0004904872,0.0001584368],"domain_scores_gemma":[0.9990684,0.00001441037,0.0003055733,0.000177845,0.0002319014,0.0002019127],"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":[0.001751158,0.001217133,0.06478028,0.0002440452,0.002023389,0.3759698,0.001463712,0.000626604,0.09014816,0.0002475858,0.01170147,0.4498267],"study_design_scores_gemma":[0.008537618,0.009114797,0.03826482,0.0006429341,0.0003164686,0.3623863,0.0009287922,0.0005340495,0.02017568,0.00002749669,0.5581363,0.0009347189],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892929,0.00087217,0.002128657,0.0003572616,0.0002375859,0.00006492605,0.00000510513,0.000003949461,0.007037419],"genre_scores_gemma":[0.996276,0.0001690807,0.0004048619,0.0002495748,0.0004792362,3.648254e-7,0.00003614427,0.00002073022,0.00236402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5464348,"threshold_uncertainty_score":0.3420251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009666010892560011,"score_gpt":0.2277178837370143,"score_spread":0.2180518728444543,"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."}}