{"id":"W2049020090","doi":"10.1136/jmedgenet-2015-103018","title":"Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":245,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Noonan syndrome; Proband; Genetics; PTPN11; Missense mutation; Pedigree chart; Biology; Exome sequencing; Exome; Gene; Mutation; KRAS","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":[0.000210151,0.0008853198,0.0003683248,0.001059592,0.0004500349,0.000400137,0.0003944073,0.0005750983,0.002315082],"category_scores_gemma":[0.001442577,0.0002560023,0.000367741,0.0007675612,0.0006347295,0.0001428598,0.0004643952,0.000311597,0.0002960243],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002490717,"about_ca_system_score_gemma":0.0002696881,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003202039,"about_ca_topic_score_gemma":0.004360338,"domain_scores_codex":[0.9997566,0.00002942787,0.00003371606,0.00007550784,0.00006266843,0.00004204259],"domain_scores_gemma":[0.9993499,0.0001222792,0.0003644791,0.00003671679,0.00004586339,0.00008083176],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000663503,0.00007732138,0.7711572,0.0002051216,0.000273971,0.08478752,0.001344561,0.0003056549,0.1298081,0.0005006564,0.0004691607,0.01040715],"study_design_scores_gemma":[0.00006876828,0.0001566315,0.773244,0.00008976443,0.000262058,0.2123263,0.0005197392,0.0005289018,0.01002132,0.0004067419,0.002347779,0.00002801679],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99854,0.0002183944,0.0002419225,0.0000428399,0.000004147078,0.000009196485,0.0001275416,0.00001483532,0.0008011218],"genre_scores_gemma":[0.9992909,0.0001609672,0.0002701152,0.0000265034,0.000006746412,0.000005026635,0.0001235213,0.000006597426,0.0001095668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003202039,"threshold_uncertainty_score":0.00774467,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01481811098303938,"score_gpt":0.2477166745522687,"score_spread":0.2328985635692293,"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."}}