{"id":"W2003209528","doi":"10.1038/ejhg.2013.130","title":"Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Developmental Biology and Gene Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; McGill University","funders":"","keywords":"Ptosis; Mutation; Missense mutation; Genetics; Phenotype; Lissencephaly; Medicine; Gene; Biology; Surgery","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":[],"consensus_categories":[],"category_scores_codex":[0.0002099332,0.000147009,0.0001688598,0.00007298651,0.0001009876,0.00002444909,0.0002387452,0.00006240261,0.0001570119],"category_scores_gemma":[0.0000238089,0.0001236124,0.000116007,0.00006208269,0.0001203771,0.00001352088,0.00006585315,0.0001087581,0.00004174246],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001238867,"about_ca_system_score_gemma":0.0000391217,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.630607e-7,"about_ca_topic_score_gemma":0.000006092712,"domain_scores_codex":[0.9989243,0.0001634601,0.0004817169,0.0001445701,0.0001245839,0.0001613492],"domain_scores_gemma":[0.9990326,0.000009934935,0.0004586566,0.0001761741,0.0002308075,0.00009188915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001958756,0.0001112233,0.01836883,0.00001711974,0.0002393739,0.00001911891,0.0003617161,0.0002049527,0.9719633,0.00000897919,0.006753721,0.001932083],"study_design_scores_gemma":[0.001393114,0.001321602,0.7248045,0.00007049012,0.00007919925,0.000379471,0.0006916911,0.00001073137,0.2648902,0.0003026978,0.005703079,0.000353225],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974988,0.0004363828,0.0005195189,0.0001283928,0.000102101,0.0001281584,0.00002634233,0.000004147371,0.001156132],"genre_scores_gemma":[0.9975381,0.00004438379,0.0005487123,0.0001043446,0.00007071279,0.00000199648,0.0001544797,0.00003035379,0.001506856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7070731,"threshold_uncertainty_score":0.5040767,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01001356529873798,"score_gpt":0.2325762719530269,"score_spread":0.2225627066542889,"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."}}