{"id":"W4401477238","doi":"10.1016/j.gim.2024.101241","title":"Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Ministero dell'Istruzione e del Merito; Ministero dell’Istruzione, dell’Università e della Ricerca; Fondazione Italiana per la Ricerca sul Cancro; Ministero della Salute; Institute of Genetics; Università degli Studi di Firenze; Associazione Italiana per la Ricerca sul Cancro; Fondazione Città della Speranza; Università Cattolica del Sacro Cuore; Fondazione AIRC per la ricerca sul cancro ETS","keywords":"Loss of heterozygosity; Loss function; Genetics; Medicine; Biology; Phenotype; Allele; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004038693,0.002422999,0.0008507007,0.00341911,0.001091624,0.0007992012,0.001189671,0.001971543,0.007335299],"category_scores_gemma":[0.001956894,0.0004716981,0.001118293,0.001803111,0.001377113,0.0004902546,0.0008331958,0.00133212,0.001039151],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003332041,"about_ca_system_score_gemma":0.0002820368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001182836,"about_ca_topic_score_gemma":0.0009955206,"domain_scores_codex":[0.9992412,0.0001203027,0.00009139709,0.0002152841,0.0001824319,0.0001492991],"domain_scores_gemma":[0.9972149,0.0006656784,0.001543756,0.0001300276,0.00007295083,0.000372625],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.004711047,0.0007566758,0.1803833,0.0002794251,0.0008311861,0.3829434,0.0008506943,0.0009226038,0.4122944,0.002061514,0.001405621,0.01256022],"study_design_scores_gemma":[0.0002207925,0.0007519416,0.3764424,0.00008264348,0.0008927913,0.5840427,0.0004397271,0.003037785,0.03068007,0.0009418858,0.002346987,0.0001202775],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954811,0.000549298,0.001464874,0.0003743242,0.0000556529,0.00002668239,0.0003018171,0.0001828488,0.00156334],"genre_scores_gemma":[0.998214,0.0001221123,0.0006142007,0.00006202166,0.00009858366,0.00001010119,0.0001217684,0.00004020276,0.0007171098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007335299,"threshold_uncertainty_score":0.02453905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01731475285681322,"score_gpt":0.2765077059600779,"score_spread":0.2591929531032647,"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."}}