{"id":"W2529341031","doi":"10.1111/cge.12884","title":"Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly","year":2016,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; SickKids Foundation; University of Toronto; Mount Sinai Hospital; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute","keywords":"Microcephaly; Biology; Brachydactyly; Protein arginine methyltransferase 5; Arginine; Genetics; Methylation; Methyltransferase; Gene; Short stature; Endocrinology; Amino acid","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":[0.00009136967,0.0005270289,0.0002443316,0.0006316659,0.0002219935,0.0001728695,0.0002180721,0.0003863655,0.0007269668],"category_scores_gemma":[0.0003575837,0.0001153084,0.0001606339,0.0002617345,0.0005780446,0.00008579628,0.000324229,0.0002978764,0.0001543559],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001607301,"about_ca_system_score_gemma":0.0001901111,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004794709,"about_ca_topic_score_gemma":0.0008466291,"domain_scores_codex":[0.99984,0.00002189814,0.00002168356,0.00003076575,0.0000624961,0.00002316817],"domain_scores_gemma":[0.9998055,0.00005450439,0.00008116647,0.000009195826,0.00001142654,0.00003817312],"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":[0.000514522,0.00009331734,0.0632551,0.0001404222,0.00009295902,0.1653221,0.0002512394,0.0006410301,0.7501193,0.000895858,0.0005163166,0.0181577],"study_design_scores_gemma":[0.00008329596,0.0006835664,0.2273323,0.00003335136,0.0001852713,0.4707183,0.0002964376,0.002733294,0.29328,0.000679497,0.003946221,0.00002848461],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973429,0.000448956,0.001228656,0.0001140231,0.000009860434,0.0000077437,0.0001110373,0.0000464755,0.0006904366],"genre_scores_gemma":[0.998843,0.0002072251,0.000530051,0.000019326,0.0000119283,0.000002901745,0.00006856676,0.000006273928,0.000310814],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007269668,"threshold_uncertainty_score":0.002431929,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01708520358898201,"score_gpt":0.2966091808443707,"score_spread":0.2795239772553886,"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."}}