{"id":"W2115356048","doi":"10.1002/ajmg.a.33379","title":"A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research","keywords":"Genetics; Biology; Locus (genetics); Population; Palpebral fissure; Hypertelorism; Identity by descent; Gene; Allele; Anatomy; Medicine; Haplotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00005800707,0.0006678193,0.0002554983,0.0006278076,0.0006902112,0.0003383487,0.0003105273,0.0003204473,0.002645041],"category_scores_gemma":[0.0003121473,0.000261038,0.0001253595,0.0005712207,0.0004938452,0.0001063741,0.0005308019,0.0002779069,0.0001676989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003481028,"about_ca_system_score_gemma":0.0003930102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009318417,"about_ca_topic_score_gemma":0.01937056,"domain_scores_codex":[0.9998789,0.00001295426,0.000007070757,0.00004510108,0.00002334865,0.00003265481],"domain_scores_gemma":[0.9998965,0.0000218076,0.00003296302,0.000007006543,0.000008142379,0.00003348818],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0008763573,0.0001934106,0.414616,0.0001694317,0.0001644612,0.2710351,0.003720484,0.0006524585,0.2648239,0.001317258,0.0009380474,0.04149307],"study_design_scores_gemma":[0.0001313166,0.0004890474,0.7327549,0.00003757286,0.00008851903,0.2553507,0.0008097834,0.0009981182,0.00596797,0.000280089,0.00306437,0.00002765719],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992187,0.00004693509,0.0002038421,0.00002217665,0.000001884785,0.000007612248,0.00005459092,0.00001147921,0.0004326963],"genre_scores_gemma":[0.9983198,0.00008630455,0.0004342437,0.00002009706,0.000004218378,0.000008573527,0.0001109225,0.000005352103,0.001010446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009318417,"threshold_uncertainty_score":0.01852834,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009176826355280603,"score_gpt":0.2564247898300508,"score_spread":0.2472479634747702,"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."}}