{"id":"W3158870224","doi":"10.1038/s41598-021-88911-3","title":"A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome","year":2021,"lang":"en","type":"article","venue":"Scientific Reports","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Newborn Screening Ontario; University of Alberta","funders":"Medical Research Council; University of Sydney; New South Wales Government; Genome Alberta; Genome British Columbia; Ontario Genomics Institute; Children's Medical Research; University of New South Wales; Wellcome Trust; Genome Canada; Ontario Genomics; Canadian Institutes of Health Research; University of Dundee","keywords":"Ubiquitin ligase; Biology; Gene; Phenotype; Genetics; Cell biology; Missense mutation; Transcription factor; Ubiquitin; Loss function; Cancer research","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001108018,0.000619451,0.0002755293,0.0002544835,0.0002084754,0.0001539453,0.0002536079,0.0005364408,0.001046928],"category_scores_gemma":[0.0002185997,0.0001060886,0.0002401418,0.0001374159,0.000359429,0.0000836994,0.0002812465,0.0004071504,0.0002639546],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002018673,"about_ca_system_score_gemma":0.0001399176,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004484468,"about_ca_topic_score_gemma":0.0005966008,"domain_scores_codex":[0.9998599,0.00002518185,0.0000215815,0.0000371264,0.00003734051,0.00001889151],"domain_scores_gemma":[0.9998648,0.00002832949,0.00004438925,0.000009786137,0.000008377498,0.0000443793],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002520582,0.00007839296,0.002749006,0.00005667998,0.00005178381,0.02175094,0.00006044558,0.0003897498,0.9698158,0.000361261,0.0002278514,0.004205961],"study_design_scores_gemma":[0.0001884918,0.001401219,0.0761309,0.00003314328,0.0001695279,0.1644555,0.0001554465,0.006770408,0.740441,0.0006044215,0.009584183,0.00006578831],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964245,0.0003114404,0.002117928,0.000114265,0.00003797791,0.00001810837,0.0001794202,0.00009218793,0.0007041997],"genre_scores_gemma":[0.9974547,0.0001305833,0.001410498,0.00005675222,0.00001651877,0.000008446717,0.0001736615,0.00002483078,0.0007240126],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001046928,"threshold_uncertainty_score":0.003502309,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01793691566371633,"score_gpt":0.2484509346207407,"score_spread":0.2305140189570244,"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."}}