{"id":"W4411494794","doi":"10.1136/jmg-2025-110654","title":"Biallelic <i>SIDT2</i> loss-of-function in a child with cerebellar ataxia and lysosomal dysfunction mimics impairment of <i>SIDT2</i> in mice","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Hospital for Sick Children","funders":"Cancer Council Victoria; Hospital for Sick Children; Royal Australasian College of Physicians; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; National Health and Medical Research Council; Lung Foundation Australia; State Government of Victoria; Ontario Genomics Institute","keywords":"Ataxia; Cerebellum; Autophagy; Atrophy; Neurodegeneration; Biology; Genetically modified mouse; Missense mutation; Cerebellar ataxia; Neuroscience; Endocrinology; Internal medicine; Mutation; Genetics; Medicine; Transgene; Disease; Gene","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":[0.0003967079,0.0001129878,0.0002401909,0.0001642557,0.00001719591,0.000007401375,0.0001355244,0.0001987374,0.00001408639],"category_scores_gemma":[0.0001096518,0.00009275483,0.00006643835,0.0002179514,0.0001281123,0.000005204639,0.00006337558,0.0001644908,1.767259e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002193088,"about_ca_system_score_gemma":0.0003295887,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001977156,"about_ca_topic_score_gemma":0.0001251034,"domain_scores_codex":[0.9986264,0.00007621728,0.000595208,0.0001461123,0.0004252862,0.0001307462],"domain_scores_gemma":[0.999308,0.00002113365,0.0002805647,0.0001315894,0.0001264996,0.0001321531],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006527072,0.001960007,0.8031479,0.0006994248,0.0003545542,0.0001418143,0.0002367264,0.005840732,0.1555331,0.0002547959,0.002355637,0.02294827],"study_design_scores_gemma":[0.02646042,0.005387289,0.8015841,0.001899418,0.0004093766,0.0006427701,0.000795632,0.003414168,0.1362214,0.0005823377,0.02201175,0.0005913609],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930061,0.003851826,0.001871291,0.0008338878,0.0001430765,0.0001130655,0.000004229541,0.000001230091,0.0001752828],"genre_scores_gemma":[0.9964564,0.002584798,0.0004549198,0.0003475638,0.00009573183,0.000001618357,0.000009343666,0.000008158889,0.00004142908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02235691,"threshold_uncertainty_score":0.3782432,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004594573415278282,"score_gpt":0.2339996392193034,"score_spread":0.2294050658040251,"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."}}