{"id":"W2917998642","doi":"10.1111/cge.13523","title":"Clinical delineation of <i>GTPBP2</i> ‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature","year":2019,"lang":"en","type":"review","venue":"Clinical Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"Institute of Genetics; Genome Alberta; Genome British Columbia; Ontario Genomics Institute; Canadian Institutes of Health Research; Genome Canada; McGill University","keywords":"Ectodermal dysplasia; Medicine; Pediatrics; Genetics; Neuroscience; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001381455,0.0004156069,0.003692278,0.00005896165,0.00003423309,0.00001629309,0.0008301134,0.0005610989,0.00001961016],"category_scores_gemma":[0.02323651,0.0002498966,0.001975296,0.0007945405,0.0006534968,0.00003776868,0.0005814536,0.0009986106,0.000004600881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005610086,"about_ca_system_score_gemma":0.0006605821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002874744,"about_ca_topic_score_gemma":6.984557e-7,"domain_scores_codex":[0.9910598,0.002363818,0.004806617,0.000903469,0.0005989533,0.0002673358],"domain_scores_gemma":[0.9901164,0.004059741,0.003980178,0.001323505,0.000287364,0.0002327792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000289473,0.0006637583,0.002531841,0.05792996,0.00009717304,0.0001341117,0.000007442425,0.000003859808,0.00003345772,0.0001443265,0.002700402,0.9357247],"study_design_scores_gemma":[0.0007940099,0.0006501939,0.004729555,0.05062866,0.003664284,0.0003169272,6.59505e-7,0.00003325777,0.0000283864,0.0001695505,0.9386278,0.0003567216],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007896115,0.988666,0.00001502065,0.0001092762,0.001541632,0.001342553,0.0003224928,0.00001646908,0.00009042559],"genre_scores_gemma":[0.0006855054,0.9961923,0.0001233459,0.002333925,0.0001746667,0.000008324246,0.00003972702,0.00004235896,0.0003998185],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9359274,"threshold_uncertainty_score":0.9999954,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1690600388075253,"score_gpt":0.4512210344533804,"score_spread":0.2821609956458551,"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."}}