{"id":"W4376868014","doi":"10.1002/ajmg.a.63249","title":"Generation of tandem alternative splice acceptor sites and <scp><i>CLTC</i></scp> haploinsufficiency: A cause of <scp><i>CLTC</i></scp>‐related disorder","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"BC Children's Hospital","keywords":"splice; Biology; Haploinsufficiency; Genetics; Alternative splicing; Splice site mutation; RNA splicing; Gene; Exon; Phenotype; RNA","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":[0.0001595403,0.0005037952,0.0002527849,0.0003858138,0.0002921542,0.0003795087,0.0002965409,0.0008482481,0.001570992],"category_scores_gemma":[0.000608464,0.0001417301,0.0003898561,0.0003206961,0.0004136018,0.0001317675,0.0002240664,0.0005448859,0.0005950154],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002559271,"about_ca_system_score_gemma":0.0002094727,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007756623,"about_ca_topic_score_gemma":0.001533306,"domain_scores_codex":[0.9997625,0.00002793921,0.00002571179,0.00007998311,0.00006871534,0.00003505047],"domain_scores_gemma":[0.9993508,0.0001831768,0.0002428386,0.00008282917,0.00005689509,0.00008336353],"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":[0.0001119298,0.00002132524,0.01248053,0.00006139178,0.00002524133,0.005330103,0.00008681846,0.0001415522,0.9777941,0.0001913238,0.0001657953,0.003589829],"study_design_scores_gemma":[0.00004597275,0.0006172944,0.1378207,0.00009651078,0.0001701499,0.05723115,0.0004214075,0.003802515,0.788055,0.0009475888,0.01073183,0.00006002854],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930003,0.0005165527,0.004649134,0.0001361615,0.00003351041,0.00003270737,0.0005580094,0.0001164654,0.0009571484],"genre_scores_gemma":[0.9925696,0.000276534,0.005359149,0.0001508748,0.00002647262,0.00002552082,0.001000212,0.00007691069,0.0005146106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001570992,"threshold_uncertainty_score":0.00525552,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02744985459132344,"score_gpt":0.3131880671018514,"score_spread":0.2857382125105279,"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."}}