{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000715578,0.0002333838,0.0006418403,0.0002586682,0.00007407303,0.00003879919,0.0000747237,0.000101763,0.0001040572],"category_scores_gemma":[0.0001445812,0.0001992182,0.00006839653,0.0004782015,0.00006412202,0.000143663,0.00006000359,0.0002597123,0.00004111556],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002162327,"about_ca_system_score_gemma":0.00008468332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001005979,"about_ca_topic_score_gemma":0.00004443634,"domain_scores_codex":[0.997742,0.0003503144,0.0007199147,0.000546709,0.0003738787,0.0002671868],"domain_scores_gemma":[0.9988005,0.0002557605,0.0003386432,0.0003949808,0.00009238064,0.0001178014],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006316836,0.0007485604,0.9434735,0.0002034287,0.00009650301,0.0004565394,0.001183963,0.00001883049,0.05233676,0.00009740962,0.00004230754,0.000710558],"study_design_scores_gemma":[0.003837273,0.005400434,0.9869947,0.0001784441,0.0002078934,0.0002921645,0.0007353273,0.00006961595,0.001974015,0.0001060569,0.000009461575,0.0001946558],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977979,0.0001545969,0.000006134638,0.00004458489,0.0001293196,0.001222186,0.000007630832,0.0000549151,0.0005827235],"genre_scores_gemma":[0.9991225,0.00001186317,0.0005196445,0.00009359251,0.00006174469,0.000007765448,0.00003062082,0.00005479648,0.0000974522],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05036274,"threshold_uncertainty_score":0.8123883,"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."}}