{"id":"W2029154531","doi":"10.1016/j.ajhg.2010.09.005","title":"Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome","year":2010,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":75,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University","funders":"Canadian Institutes of Health Research","keywords":"Blepharophimosis; Genetics; Biology; Arachnodactyly; Missense mutation; Sanger sequencing; Exome sequencing; Exon; Camptodactyly; Candidate gene; Gene; Disease gene identification; Mutation; Marfan syndrome; Medicine; Ptosis","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":[0.0003044655,0.00211714,0.001090655,0.001919669,0.0009803529,0.0008615953,0.001532014,0.003879581,0.006737812],"category_scores_gemma":[0.002717813,0.0005968061,0.0007997886,0.001242094,0.00156425,0.0005852337,0.001122345,0.001335748,0.001316263],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004396067,"about_ca_system_score_gemma":0.0005084685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002113053,"about_ca_topic_score_gemma":0.002055417,"domain_scores_codex":[0.9993672,0.00008566368,0.00008531212,0.000147879,0.0002104568,0.0001035189],"domain_scores_gemma":[0.9982669,0.0007260582,0.0004134563,0.00009115694,0.00008466364,0.0004177856],"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":[0.0006380063,0.0001464836,0.0128235,0.0001663568,0.0002357204,0.8348766,0.0007346759,0.0009962888,0.1344005,0.002543084,0.001859528,0.01057918],"study_design_scores_gemma":[0.0004035037,0.0001983773,0.03767918,0.00009902179,0.0002866933,0.9082905,0.0004752601,0.002919412,0.03920248,0.001899839,0.008423164,0.0001225668],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840465,0.001728793,0.003003209,0.001338903,0.0004540041,0.00006943203,0.0007746342,0.0003195064,0.008265033],"genre_scores_gemma":[0.9963922,0.0002050732,0.001701611,0.0001453758,0.0001293804,0.00001456634,0.0002079771,0.00006129561,0.001142483],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006737812,"threshold_uncertainty_score":0.02254015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02995051996281577,"score_gpt":0.3554109200084734,"score_spread":0.3254604000456576,"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."}}