{"id":"W2106889746","doi":"10.1002/humu.22809","title":"Molecular Diversity and Associated Phenotypic Spectrum of Germline<i>CBL</i>Mutations","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre","funders":"Associazione Italiana per la Ricerca sul Cancro; Ministero della Salute; Fondazione Telethon; Deutsche Forschungsgemeinschaft","keywords":"Biology; Genetics; Missense mutation; Germline mutation; Germline; Phenotype; Noonan syndrome; Mutation; Frameshift mutation; Nonsense mutation; Cancer research; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000125967,0.00007637189,0.00008373525,0.00003466107,0.0001338505,0.000008588257,0.00007088322,0.00005891377,0.000005856434],"category_scores_gemma":[0.0001475425,0.00008629767,0.00002740936,0.00006623167,0.00007277563,0.000006860035,0.0001810959,0.00003510317,0.000002545647],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001701967,"about_ca_system_score_gemma":0.00002890363,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009785116,"about_ca_topic_score_gemma":0.00005020243,"domain_scores_codex":[0.999456,0.00004601436,0.0001236511,0.0001590642,0.0001190721,0.00009621267],"domain_scores_gemma":[0.9996047,0.000005481706,0.0001081302,0.0001252528,0.000101042,0.00005539398],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002076735,0.0004388948,0.0627771,0.00008842846,0.0003340795,0.00004294001,0.002106509,0.002396897,0.8985302,0.028805,0.00230595,0.001966287],"study_design_scores_gemma":[0.001350734,0.0003795749,0.07456282,0.00001363103,0.00006806711,0.00000592997,0.0001086904,0.0001459724,0.9109177,0.01213937,0.0001223851,0.0001851061],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960212,0.001235126,0.002254443,0.00005475611,0.00003146559,0.0001380493,0.00003754499,0.00001299645,0.0002143948],"genre_scores_gemma":[0.9989437,0.00000542408,0.0002975684,0.00005768391,0.00002694346,0.000005467332,0.0006053313,0.00000912954,0.00004868118],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01666562,"threshold_uncertainty_score":0.3519117,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02054084460743372,"score_gpt":0.2571836967069577,"score_spread":0.236642852099524,"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."}}