{"id":"W4409967382","doi":"10.1111/cge.14763","title":"A Novel Intronic Variant in the <scp>KH3</scp> Domain of <scp>HNRNPK</scp> Leads to a Mild Form of Au‐Kline Syndrome","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Ministero dell’Istruzione, dell’Università e della Ricerca; Consiglio Nazionale delle Ricerche; Simons Foundation Autism Research Initiative; Ontario Brain Institute","keywords":"dNaM; Phenotype; Biology; RNA splicing; Missense mutation; Genetics; Loss function; Computational biology; Epigenomics; Gene; DNA methylation; RNA; Gene expression","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009659114,0.0002417282,0.0004977759,0.0001061062,0.00005084644,0.0000178893,0.0007762372,0.000347113,0.000002400727],"category_scores_gemma":[0.001410852,0.000191907,0.0003368691,0.0003525603,0.0002574884,0.000002187531,0.0004274747,0.0002246618,0.000006584452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002335577,"about_ca_system_score_gemma":0.0005256195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002951194,"about_ca_topic_score_gemma":0.0001679976,"domain_scores_codex":[0.9976444,0.0001283836,0.001080352,0.0004983926,0.0001988247,0.000449691],"domain_scores_gemma":[0.9980975,0.0004887623,0.0002457001,0.0008580757,0.000158266,0.0001516757],"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":[0.0003732,0.01338468,0.2022519,0.001578579,0.002100911,0.0003160083,0.003998124,0.00903289,0.7055785,0.01104843,0.03913663,0.01120019],"study_design_scores_gemma":[0.01027666,0.007592248,0.6984582,0.000507751,0.0007323183,0.0002257124,0.00363755,0.001349059,0.0453211,0.0082625,0.2232547,0.0003822236],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916518,0.002030235,0.004329633,0.0002088736,0.0003154625,0.0005077822,0.0001732623,0.000005115801,0.0007778408],"genre_scores_gemma":[0.9931777,0.0006711373,0.004207012,0.001151387,0.0001455054,0.00003636447,0.00008528902,0.00002571899,0.0004998819],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6602574,"threshold_uncertainty_score":0.782574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02052478299930395,"score_gpt":0.3135760597722048,"score_spread":0.2930512767729008,"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."}}