{"id":"W4318015004","doi":"10.1101/2023.01.25.525394","title":"A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"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","keywords":"ATRX; Microcephaly; Biology; Missense mutation; Null allele; Loss function; Chromatin; Mutation; Genetics; Cockayne syndrome; Allele; Gene; DNA repair; Nucleotide excision repair; Phenotype","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":[0.0003804167,0.000991188,0.0004770042,0.001484261,0.000356871,0.0004326743,0.0006770739,0.001156679,0.006229901],"category_scores_gemma":[0.0001074453,0.0003648642,0.000616045,0.0003635883,0.0006246432,0.0004593234,0.0005503644,0.001439623,0.002195924],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004040941,"about_ca_system_score_gemma":0.0002299167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004662815,"about_ca_topic_score_gemma":0.0008194529,"domain_scores_codex":[0.9995963,0.00004355026,0.00006269413,0.000128897,0.0001180347,0.00005048354],"domain_scores_gemma":[0.9997585,0.00004776091,0.0000634757,0.00003399525,0.00002057838,0.00007553102],"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":[0.00008943014,0.00006180935,0.0001289722,0.00003684152,0.00001117056,0.0004676052,0.00002847609,0.0001198054,0.9972193,0.0006566671,0.0002083122,0.0009715866],"study_design_scores_gemma":[0.0000687197,0.0003941785,0.002121248,0.00002924464,0.00005447853,0.004229319,0.00004644484,0.001848144,0.9762086,0.0004548898,0.01452514,0.000019579],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9193199,0.002341534,0.05079644,0.001345475,0.0003909996,0.0002536968,0.01090939,0.002157498,0.01248506],"genre_scores_gemma":[0.8855323,0.002186737,0.04171338,0.000466946,0.00005407267,0.0004736955,0.008332204,0.0008045115,0.06043601],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006229901,"threshold_uncertainty_score":0.02084112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.018409091360996,"score_gpt":0.2134228814362854,"score_spread":0.1950137900752894,"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."}}