{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003135312,0.0008273314,0.00147817,0.004042948,0.0002075894,0.0006729329,0.0008496956,0.0008967611,0.001406624],"category_scores_gemma":[0.0005735789,0.0002115636,0.0002769494,0.002824875,0.0005108212,0.001093105,0.0005602821,0.0009413348,0.001034496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003403163,"about_ca_system_score_gemma":0.0006071855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007709163,"about_ca_topic_score_gemma":0.00124147,"domain_scores_codex":[0.9998431,0.00001997879,0.00005162707,0.00003440869,0.0000349179,0.00001597378],"domain_scores_gemma":[0.9996743,0.0001683085,0.00005298799,0.00001174527,0.00004872115,0.00004391946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0001054042,0.00007673308,0.001857684,0.016015,0.0001517214,0.01637819,0.0002292577,0.0004194387,0.003636522,0.001689974,0.02865388,0.9307863],"study_design_scores_gemma":[0.00005877414,0.0001759516,0.01911773,0.008251579,0.0005515354,0.2633141,0.0004880312,0.0003180853,0.00138357,0.002658327,0.7035686,0.0001135893],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001337825,0.9965028,0.00031833,0.0002980235,0.0001550677,0.000006581843,0.00004197243,0.00001604583,0.001323414],"genre_scores_gemma":[0.006431734,0.9914619,0.000693074,0.0004353816,0.0002701969,0.00001351889,0.000114185,0.00000445315,0.0005757262],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004042948,"threshold_uncertainty_score":0.004705608,"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."}}