{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001862901,0.001046691,0.0004055311,0.0006297874,0.000342207,0.0002450501,0.000338334,0.001174371,0.00122834],"category_scores_gemma":[0.0009951015,0.0002193967,0.0004379654,0.0003875064,0.0008934555,0.0001435487,0.0003869984,0.0005285559,0.0003194307],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003106454,"about_ca_system_score_gemma":0.0002387588,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00138718,"about_ca_topic_score_gemma":0.001410915,"domain_scores_codex":[0.9996525,0.00007018932,0.0000343957,0.0001130786,0.00009006069,0.00003970264],"domain_scores_gemma":[0.9993993,0.0002708554,0.0001472416,0.00003171185,0.00002609287,0.00012483],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.001122985,0.0002543741,0.03054441,0.0001770656,0.0001909521,0.5102485,0.000552643,0.001095062,0.4418416,0.0008106671,0.0007114826,0.01245024],"study_design_scores_gemma":[0.0001552845,0.001275947,0.2195437,0.00005117638,0.0001856177,0.6989869,0.0002213473,0.005262939,0.07004859,0.0005745339,0.003607521,0.00008642397],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959648,0.0002309311,0.002311267,0.0001561055,0.00003806055,0.00006099553,0.0002625484,0.0001097809,0.0008655657],"genre_scores_gemma":[0.9985148,0.0000726938,0.0008914066,0.00004855644,0.00002003974,0.000007763098,0.0001060528,0.00001730567,0.0003214339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00138718,"threshold_uncertainty_score":0.004109204,"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."}}