{"id":"W4285492964","doi":"10.1186/s12920-022-01304-x","title":"LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis","year":2022,"lang":"en","type":"review","venue":"BMC Medical Genomics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Ontario Institute for Cancer Research; University Health Network; Toronto General Hospital; University of Toronto; Princess Margaret Cancer Centre","funders":"","keywords":"Neurofibromatosis type 2; Noonan syndrome; Neurofibromatosis; Exome; Exome sequencing; Neurofibromatoses; Medicine; Genetics; Intellectual disability; Pathology; Biology; Mutation; 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":[0.0003996051,0.0006296113,0.0008910826,0.002282647,0.000168771,0.0006181599,0.0007351492,0.001060557,0.001515798],"category_scores_gemma":[0.0009467035,0.0001569835,0.0002848314,0.001484339,0.000414233,0.0007123686,0.0004164901,0.0009779875,0.0009716992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004166583,"about_ca_system_score_gemma":0.0007154442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005907338,"about_ca_topic_score_gemma":0.0008862012,"domain_scores_codex":[0.9998204,0.00002948813,0.00004011131,0.00004064176,0.00004938465,0.00001993612],"domain_scores_gemma":[0.9996537,0.0001880664,0.00005832829,0.000008484284,0.00006284751,0.00002867458],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000131455,0.00003020097,0.001012352,0.01150434,0.0001230529,0.005772829,0.00008722744,0.0004456287,0.002274421,0.002536289,0.02884426,0.947238],"study_design_scores_gemma":[0.00003985097,0.0001132476,0.004884725,0.006262216,0.0003993316,0.09253354,0.0001815022,0.0002411805,0.001303228,0.003402514,0.8905945,0.0000440188],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00051868,0.9974963,0.0001937516,0.0004669854,0.0001903699,0.000003379874,0.00001959094,0.00001431095,0.001096549],"genre_scores_gemma":[0.005857209,0.9922884,0.0003514064,0.0005054657,0.0003640688,0.000006850479,0.00006948885,0.000004132764,0.0005529108],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002282647,"threshold_uncertainty_score":0.005070865,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05897585288648152,"score_gpt":0.3606471087956605,"score_spread":0.301671255909179,"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."}}