{"id":"W2167064895","doi":"10.1038/ng.1105","title":"Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":244,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Biology; Genetics; Missense mutation; Chromatin remodeling; Exome sequencing; Transcription factor; SMARCA4; Mutation; Gene","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":[0.0001407164,0.0001684503,0.0001360636,0.00005773067,0.00005209836,0.00001830382,0.0001494249,0.0004522713,0.00002526523],"category_scores_gemma":[0.00006566368,0.0001678294,0.00007425732,0.0001346397,0.00004142702,0.000003539992,0.0000638342,0.0003032216,0.00002164603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003385834,"about_ca_system_score_gemma":0.00006670932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008979593,"about_ca_topic_score_gemma":0.00007243611,"domain_scores_codex":[0.998962,0.00004676229,0.0002115477,0.0002539153,0.0001527623,0.0003729418],"domain_scores_gemma":[0.9993764,0.0000126728,0.00005361761,0.0003669052,0.00006475882,0.0001256559],"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":[0.0002142863,0.0009245002,0.1563689,0.0002305049,0.0003751545,0.0001953609,0.001137041,0.01166657,0.7973117,0.00009780875,0.01413523,0.01734298],"study_design_scores_gemma":[0.004752649,0.0009369488,0.4195385,0.0002056457,0.0002757829,0.003389263,0.0004726526,0.003028496,0.4211388,0.0006267705,0.1431301,0.002504338],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850132,0.01367876,0.0001557927,0.0000886366,0.0004275052,0.0001588329,0.00002380145,0.00001666749,0.0004367473],"genre_scores_gemma":[0.9959202,0.0003105867,0.00230142,0.0005528531,0.000297184,0.00001883638,0.00010916,0.00003561771,0.00045409],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3761729,"threshold_uncertainty_score":0.6843883,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01113729179701423,"score_gpt":0.2833789914719329,"score_spread":0.2722416996749186,"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."}}