{"id":"W4413313235","doi":"10.1371/journal.pgen.1011828","title":"Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity","year":2025,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Austrian Science Fund; Deutsche Forschungsgemeinschaft","keywords":"Biology; Genetics; Function (biology); Bioinformatics","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00005541158,0.0002702443,0.0002872622,0.0001945163,0.0001292048,0.00002053156,0.0002612351,0.00004720483,0.000009995882],"category_scores_gemma":[0.0001977543,0.0002529621,0.00006203064,0.0005386181,0.0001453528,0.00005632452,0.000140371,0.0001351658,0.000005018592],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003026287,"about_ca_system_score_gemma":0.0001454796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009507812,"about_ca_topic_score_gemma":0.00002127816,"domain_scores_codex":[0.9980887,0.0002723892,0.0003120898,0.0005785017,0.0004496524,0.0002986262],"domain_scores_gemma":[0.9989465,0.0002777292,0.0001727426,0.0004238786,0.00008305985,0.00009612513],"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":[0.000351415,0.0006207696,0.01432826,0.0002867387,0.00005938011,0.00001059008,0.0002197362,0.007043571,0.9757975,0.0001209228,0.00005251192,0.001108653],"study_design_scores_gemma":[0.001075344,0.0005979089,0.05505791,0.0001319873,0.0001394564,0.000001839322,0.00002306787,0.004339224,0.9382514,0.0001758475,0.000008495895,0.0001974988],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972471,0.00005955656,0.0007000776,0.00008132702,0.0003502297,0.0006525076,0.00005489685,0.00004521323,0.000809117],"genre_scores_gemma":[0.9988576,0.00007606728,0.0002979571,0.000589633,0.0000209643,0.00004327717,0.000006399191,0.00003505098,0.00007308197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04072965,"threshold_uncertainty_score":0.9999923,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02134143733111141,"score_gpt":0.2429931029079798,"score_spread":0.2216516655768684,"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."}}