{"id":"W2966556167","doi":"10.1002/ajmg.a.61306","title":"Phenotype delineation of <i>ZNF462</i> related syndrome","year":2019,"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":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Essar Steel Algoma (Canada)","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Eye Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Haploinsufficiency; Phenotype; Palpebral fissure; Ptosis; Hypotonia; Noonan syndrome; Loss function; Dysgenesis; Craniosynostosis; Biology; Medicine; Genetics; Anatomy; Surgery","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":[0.0002637113,0.0008516504,0.0002991639,0.000749615,0.0002957036,0.0002629689,0.0002441125,0.0003855719,0.001798315],"category_scores_gemma":[0.0008773162,0.00008910421,0.0002534713,0.0002800817,0.0005852314,0.0002115571,0.0005109254,0.0003308835,0.0002171026],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001647488,"about_ca_system_score_gemma":0.0002362966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001364274,"about_ca_topic_score_gemma":0.001466829,"domain_scores_codex":[0.9997649,0.00003186037,0.00003292064,0.00007370565,0.00006195378,0.0000346578],"domain_scores_gemma":[0.9997495,0.00006490447,0.00007203018,0.00001242259,0.00003270699,0.00006849161],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006638335,0.0001132105,0.4289825,0.0001918472,0.0001068452,0.1888309,0.001230647,0.001141572,0.325379,0.001571783,0.002035255,0.04975253],"study_design_scores_gemma":[0.00005800164,0.0005987646,0.4458667,0.00006894483,0.0001041539,0.5045725,0.0006835597,0.002843421,0.04108787,0.0005682189,0.003513803,0.0000341585],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944376,0.0002442978,0.002239596,0.0001424338,0.00001719738,0.00004312639,0.0003330156,0.00008662188,0.002456196],"genre_scores_gemma":[0.9976652,0.0001484329,0.001546486,0.00007561052,0.00001044031,0.00001242201,0.0001586335,0.00001789336,0.0003648395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001798315,"threshold_uncertainty_score":0.006015897,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00611301659046606,"score_gpt":0.2608628224147649,"score_spread":0.2547498058242988,"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."}}