{"id":"W3193734211","doi":"10.3390/brainsci11081105","title":"Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes","year":2021,"lang":"en","type":"article","venue":"Brain Sciences","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Université de Strasbourg; Ministero della Salute","keywords":"Missense mutation; Intellectual disability; Genetics; Phenotype; Gene; CLs upper limits; Mutation; Biology; Loss function; Medicine","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":[0.0002084591,0.001393488,0.0004288757,0.001335988,0.0008546049,0.0004777755,0.0004953015,0.001926858,0.001867146],"category_scores_gemma":[0.001213987,0.0003629081,0.0006379213,0.000374854,0.0009112791,0.0003238536,0.0007043174,0.0007548652,0.0002441416],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005224845,"about_ca_system_score_gemma":0.0003674343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001622658,"about_ca_topic_score_gemma":0.001057787,"domain_scores_codex":[0.9996383,0.00003061153,0.00004093697,0.0001586574,0.00006592672,0.00006549944],"domain_scores_gemma":[0.9994537,0.0001714727,0.0001109325,0.00002893762,0.00003124144,0.0002036868],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003811917,0.0003011656,0.07971578,0.00008384402,0.0000872531,0.8407055,0.001851173,0.0003251615,0.06996258,0.0006483563,0.0003885328,0.005549608],"study_design_scores_gemma":[0.0001033557,0.0004344456,0.1205814,0.0000158138,0.00008725707,0.8668132,0.000262739,0.0007588096,0.009729325,0.000191474,0.0009849006,0.00003736167],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998738,0.000131571,0.0004058157,0.0001138063,0.00001865403,0.00002245811,0.00007787975,0.00001665937,0.0004750319],"genre_scores_gemma":[0.9991553,0.00004523918,0.0003287496,0.00006843798,0.00002272982,0.00001052955,0.0000649029,0.000006914555,0.0002971365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001926858,"threshold_uncertainty_score":0.006246209,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01110988974432437,"score_gpt":0.2615037737208245,"score_spread":0.2503938839765001,"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."}}