{"id":"W4381278262","doi":"10.53846/goediss-9890","title":"Genotype-Phenotype Correlation in Noonan Syndrome – Focus on LZTR1 and its Substrates","year":2023,"lang":"en","type":"dissertation","venue":"","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Bundesministerium für Bildung und Forschung; Fondation Leducq; Deutsche Forschungsgemeinschaft; Universitätsmedizin Göttingen; Deutsches Zentrum für Herz-Kreislaufforschung","keywords":"Induced pluripotent stem cell; MYH7; Noonan syndrome; Biology; Phenotype; Genetics; Germline; Cancer research; Gene; Embryonic stem cell; Gene isoform","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":[0.0002099421,0.0006316066,0.0003360099,0.0008921968,0.0001824198,0.0003314309,0.0002802444,0.0006849095,0.00256895],"category_scores_gemma":[0.0007674123,0.0001354213,0.0003169288,0.0004023859,0.0003573086,0.0001681736,0.0003941168,0.0003379103,0.0004249154],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001236988,"about_ca_system_score_gemma":0.00009517892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003597862,"about_ca_topic_score_gemma":0.0003165244,"domain_scores_codex":[0.999666,0.00005876009,0.00004540485,0.0001255689,0.00007418591,0.00003000116],"domain_scores_gemma":[0.9994722,0.0002171076,0.0001739425,0.00002956773,0.00003249486,0.00007461296],"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":[0.002368239,0.000160201,0.3327407,0.0002382793,0.0002765127,0.08009952,0.000932984,0.000802176,0.5606576,0.0009363149,0.0005425299,0.02024496],"study_design_scores_gemma":[0.00008625503,0.0007891848,0.733113,0.00009446721,0.0005267211,0.1966757,0.0005071545,0.00243824,0.05854854,0.001211204,0.005942713,0.00006685447],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970859,0.0009272073,0.0006682351,0.000121764,0.00001911695,0.000008212169,0.0002102074,0.00002343333,0.0009360926],"genre_scores_gemma":[0.998674,0.0002892568,0.0004664981,0.00005567327,0.00002056578,0.000006499062,0.0001765019,0.00001467518,0.0002963135],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00256895,"threshold_uncertainty_score":0.008594036,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01008053780541434,"score_gpt":0.2517083425999317,"score_spread":0.2416278047945174,"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."}}