{"id":"W2979328224","doi":"10.1002/humu.23929","title":"Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":133,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McMaster University; B.C. Women's Hospital & Health Centre; McMaster University Medical Centre; University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Missense mutation; Neurofibromatosis; Cohort; Biology; Phenotype; Genotype; Genetics; Population; Internal medicine; Gastroenterology; Medicine; 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":[0.0002739219,0.0007209235,0.0003546559,0.000860007,0.0007678944,0.0004774199,0.0003134114,0.0006279378,0.001561094],"category_scores_gemma":[0.001164511,0.0002702046,0.0002430606,0.0003793267,0.000433188,0.0002345988,0.0004000503,0.0003031809,0.0003360608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001695762,"about_ca_system_score_gemma":0.0001506412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00312103,"about_ca_topic_score_gemma":0.002458464,"domain_scores_codex":[0.999678,0.00006291807,0.00003782538,0.000108289,0.00005581732,0.00005728602],"domain_scores_gemma":[0.999521,0.0001047317,0.0001496843,0.0000241772,0.00004967268,0.0001507485],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000518108,0.0001101025,0.9837821,0.00001128662,0.00005749628,0.005880262,0.000406203,0.0001408697,0.005727709,0.00005425969,0.0002856833,0.003025918],"study_design_scores_gemma":[0.00003243175,0.0002862475,0.9786941,0.00001336379,0.00004759976,0.01950593,0.0003004796,0.000305856,0.0004859601,0.00007487051,0.0002387285,0.0000145185],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995317,0.00004210218,0.00004814722,0.00001510534,0.000002111092,0.000004875773,0.00005626672,0.000004816547,0.0002949333],"genre_scores_gemma":[0.9996819,0.00002416336,0.00005831648,0.00002328504,0.000005081123,0.0000044219,0.00009571909,0.000002628919,0.0001044226],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00312103,"threshold_uncertainty_score":0.006205678,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02912770599655381,"score_gpt":0.3114577323711493,"score_spread":0.2823300263745955,"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."}}