{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002300279,0.0009424117,0.0004422948,0.00102772,0.0003639605,0.0002599628,0.0003466443,0.0006672788,0.001594285],"category_scores_gemma":[0.000955874,0.0002758726,0.0002845844,0.0004890537,0.0007068231,0.0002121227,0.0005602401,0.0004822474,0.0002580502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001904513,"about_ca_system_score_gemma":0.000217654,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006197979,"about_ca_topic_score_gemma":0.0009041267,"domain_scores_codex":[0.999756,0.00003729542,0.00002627529,0.00008229439,0.00005332799,0.00004488068],"domain_scores_gemma":[0.9994399,0.0001840535,0.0001950107,0.00002592437,0.00002495465,0.000130203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007109468,0.0001856739,0.1145047,0.0001920334,0.0001400797,0.6198947,0.00168678,0.0008301148,0.2374446,0.001997472,0.0005853926,0.02182747],"study_design_scores_gemma":[0.0001031557,0.0005811912,0.1461699,0.00004307695,0.0001266372,0.8281537,0.00027496,0.0007231509,0.02081453,0.0006768813,0.002302069,0.00003078212],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972163,0.0003694431,0.001183502,0.00009307628,0.00001169347,0.00001135433,0.0000669341,0.00003369158,0.001013877],"genre_scores_gemma":[0.9978709,0.0002425852,0.001179228,0.00004278589,0.00002510428,0.000007030408,0.0000795754,0.000007531084,0.0005452699],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001594285,"threshold_uncertainty_score":0.005333364,"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."}}