{"id":"W2098036819","doi":"10.1002/humu.22037","title":"Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features","year":2012,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":104,"is_retracted":false,"has_abstract":true,"ca_institutions":"Credit Valley Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Institute of Mental Health; Howard Hughes Medical Institute","keywords":"Biology; Genetics; Haploinsufficiency; Phenotype; Gene; Speech delay; Transcription factor; Exon; Gene isoform","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001689786,0.001053799,0.0003669259,0.0009051338,0.0004204904,0.000237204,0.0003176308,0.0004829588,0.003195331],"category_scores_gemma":[0.0004715758,0.0002949768,0.000157258,0.0004306064,0.0007290714,0.0001076793,0.0004077418,0.0003932165,0.0004669838],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001665446,"about_ca_system_score_gemma":0.0001566773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001611537,"about_ca_topic_score_gemma":0.00231032,"domain_scores_codex":[0.99972,0.00004041352,0.00003613539,0.0001169424,0.00005340796,0.00003311552],"domain_scores_gemma":[0.9996116,0.0001087743,0.0001544173,0.00003048049,0.00001855153,0.00007618921],"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":[0.001171517,0.0001554754,0.08895142,0.0001758756,0.0001915867,0.05289065,0.0007911425,0.0004150537,0.8331373,0.0006645064,0.0009554479,0.02049995],"study_design_scores_gemma":[0.0001561694,0.0009855914,0.6415395,0.00006429395,0.000273592,0.2490585,0.0004327999,0.001215332,0.09852018,0.000585215,0.007106072,0.00006278782],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981052,0.0002356714,0.0006923518,0.0000446364,0.00001054858,0.00001031142,0.0001803216,0.00004368239,0.0006772398],"genre_scores_gemma":[0.9979977,0.0001835264,0.000600138,0.00002723289,0.00002216407,0.000008774814,0.0002370645,0.00003003029,0.0008933502],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003195331,"threshold_uncertainty_score":0.0106895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01307984973740771,"score_gpt":0.2231000375057575,"score_spread":0.2100201877683498,"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."}}