{"id":"W4306733120","doi":"10.1002/acn3.51679","title":"Phenotypic continuum of <scp><i>NFU1</i></scp>‐related disorders","year":2022,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Metalloenzymes and iron-sulfur proteins","field":"Energy","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre; McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Medical Research Council; The Wellcome Trust DBT India Alliance; Rosetrees Trust; Spastic Paraplegia Foundation; Brain Research Trust; Ataxia UK; Wellcome Trust; National Institute of Allergy and Infectious Diseases; Muscular Dystrophy Association","keywords":"Medicine; Phenotype; Leukoencephalopathy; Hereditary spastic paraplegia; Missense mutation; Allele; Hypotonia; Pediatrics; Genetics; Bioinformatics; Pathology; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002491175,0.0007520345,0.000386168,0.0009168883,0.0006576975,0.0004703684,0.0003817076,0.0004360712,0.002006061],"category_scores_gemma":[0.001177181,0.0001884227,0.0001882948,0.0004845053,0.0005976284,0.0003274363,0.0009617859,0.0003549715,0.0002689835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001534503,"about_ca_system_score_gemma":0.0002211179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008413133,"about_ca_topic_score_gemma":0.0008193139,"domain_scores_codex":[0.9996928,0.00005860514,0.00004115325,0.00008192453,0.00006235444,0.00006324911],"domain_scores_gemma":[0.9995409,0.0001358786,0.0001281025,0.00002381978,0.00005470516,0.0001166795],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001321979,0.0003564022,0.659344,0.0001039958,0.0001473219,0.216566,0.002449465,0.000553196,0.09431366,0.001432915,0.001270946,0.02214009],"study_design_scores_gemma":[0.00006157801,0.0005892872,0.5825644,0.0000495049,0.00007768986,0.4081367,0.001045962,0.0006724616,0.004555841,0.0009333762,0.001282254,0.00003105308],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998211,0.00009938773,0.0002422341,0.00005287668,0.000002624786,0.000008923323,0.00008051628,0.00001687884,0.001285619],"genre_scores_gemma":[0.9993728,0.00006354331,0.0002119288,0.00003878768,0.000007445652,0.000006996203,0.0001196114,0.000005344816,0.0001735973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002006061,"threshold_uncertainty_score":0.006710947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05457318324574101,"score_gpt":0.322829508208631,"score_spread":0.26825632496289,"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."}}