{"id":"W4412940493","doi":"10.1136/jmg-2025-110783","title":"Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotel Dieu Hospital","funders":"ZonMw; Agence Nationale de la Recherche","keywords":"Missense mutation; Neurofibromin 1; Neurofibromatosis; Penetrance; Genetics; Genotype; Phenotype; Biology; Neurofibromatosis type I; Point mutation; Gene; Mutation","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":[0.0003561912,0.0001577778,0.0004487844,0.0002940202,0.0000477825,0.00002448999,0.0002013603,0.0001688625,0.0001902529],"category_scores_gemma":[0.0007141118,0.000111272,0.00008333798,0.0006694944,0.00007855288,0.00005760887,0.00007122579,0.0005169795,0.00001442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005169178,"about_ca_system_score_gemma":0.0007008277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007180897,"about_ca_topic_score_gemma":0.000007539611,"domain_scores_codex":[0.9976594,0.0001008958,0.0007795243,0.0001701924,0.00105929,0.0002306649],"domain_scores_gemma":[0.9985968,0.0001891548,0.0002551694,0.0002552085,0.0004000762,0.0003035211],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003246857,0.002346213,0.9447353,0.000272261,0.000306065,0.001694997,0.0002086396,0.0001613231,0.0024466,0.0009306541,0.03125209,0.012399],"study_design_scores_gemma":[0.005812746,0.002113782,0.9839011,0.0009076645,0.0002295599,0.0002677335,0.00003868149,0.000385218,0.0004618272,0.0002027086,0.005542214,0.0001366998],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924852,0.0006798122,0.0003416048,0.004325319,0.0006842216,0.0001790933,0.00000423025,0.00001232519,0.001288143],"genre_scores_gemma":[0.9949577,0.0002855977,0.002526861,0.001935752,0.0001160021,0.000001326559,0.000007615032,0.00002335775,0.0001457972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03916586,"threshold_uncertainty_score":0.4537541,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01174882032314834,"score_gpt":0.2630843126187628,"score_spread":0.2513354922956145,"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."}}