{"id":"W2012768593","doi":"10.1159/000354038","title":"Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype","year":2013,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Alberta Health; Alberta Health Services; Alberta Children's Hospital","funders":"","keywords":"Haploinsufficiency; Phenotype; Arachnodactyly; Scoliosis; Marfan syndrome; Genetics; Pectus excavatum; Comparative genomic hybridization; Microdeletion syndrome; Cataracts; Short stature; Biology; Chromosome; Developmental disorder; Medicine; Gene; Autism; Pediatrics; Internal medicine","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":[0.00009423965,0.0002383685,0.0002182205,0.00006128499,0.0001409188,0.00003575246,0.0001669562,0.0002163881,0.0002739914],"category_scores_gemma":[0.00009011084,0.0002224725,0.00005743537,0.0000949691,0.0001941923,0.000005238465,0.0003614603,0.0001052017,0.00008639571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004826998,"about_ca_system_score_gemma":0.00006780569,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009937053,"about_ca_topic_score_gemma":0.0001181928,"domain_scores_codex":[0.9986284,0.00009810396,0.0002260169,0.0004884362,0.0001215269,0.0004375596],"domain_scores_gemma":[0.9994369,0.0000129568,0.00008726051,0.0002229878,0.00009619556,0.0001437192],"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":[0.00005098341,0.0001960979,0.01631137,0.00003079705,0.0007568929,0.001337273,0.0001934776,0.00007028723,0.9736713,0.0002834242,0.001645943,0.00545211],"study_design_scores_gemma":[0.01448363,0.0116944,0.4585431,0.000378683,0.0007196487,0.2524978,0.0007940875,0.002184859,0.2221043,0.001278017,0.02935576,0.005965676],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991959,0.0002754824,0.005348395,0.0001608212,0.00009566291,0.0002896422,0.000007365813,0.00002188816,0.00184172],"genre_scores_gemma":[0.9945881,0.00001844254,0.003697232,0.0004648186,0.00002138414,0.00007628899,0.000141305,0.00004332398,0.0009491361],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.751567,"threshold_uncertainty_score":0.9072164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005318222675318374,"score_gpt":0.1928868455536051,"score_spread":0.1875686228782867,"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."}}