{"id":"W4376223951","doi":"10.1093/hmg/ddad075","title":"A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects","year":2023,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Institute for Cancer Research; SickKids Foundation; University of Toronto; Ottawa Hospital; University of Ottawa; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Wellcome Trust","keywords":"ATRX; Microcephaly; Biology; Missense mutation; Loss function; Genetics; Chromatin; Null allele; Mutation; Cockayne syndrome; Allele; Gene; DNA repair; Phenotype; Nucleotide excision repair","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":[0.0003674125,0.00137433,0.0006558223,0.001837691,0.0005253294,0.0004614699,0.0009252469,0.001543826,0.007433005],"category_scores_gemma":[0.0001604199,0.000521038,0.0007556955,0.0005700964,0.0008275814,0.0006743804,0.0005711006,0.002201495,0.002359762],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004958246,"about_ca_system_score_gemma":0.0003721457,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006014793,"about_ca_topic_score_gemma":0.001227917,"domain_scores_codex":[0.9994659,0.00005248783,0.00007741412,0.0002142495,0.0001258061,0.00006407124],"domain_scores_gemma":[0.9997259,0.00004132971,0.00008493159,0.00003637747,0.00002500256,0.00008642438],"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":[0.000210574,0.0002311468,0.0002914077,0.0000835615,0.00003050907,0.0009446741,0.00006192418,0.0001453525,0.9931989,0.001338071,0.0005863361,0.002877426],"study_design_scores_gemma":[0.0002521613,0.002096499,0.006174119,0.00008025773,0.000220203,0.01488372,0.0001252567,0.002865684,0.9249317,0.001193457,0.0471238,0.00005315199],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9110752,0.003932396,0.05433711,0.001875277,0.0006617534,0.000526351,0.01146814,0.002869152,0.01325474],"genre_scores_gemma":[0.8677501,0.00471038,0.05018591,0.0007869595,0.00009474274,0.001139715,0.01079258,0.0006571835,0.06388235],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007433005,"threshold_uncertainty_score":0.02486587,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01954999119197739,"score_gpt":0.2421069364428867,"score_spread":0.2225569452509093,"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."}}