{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001941087,0.0005807749,0.0003275284,0.001398898,0.0002109993,0.000266727,0.0002561124,0.000278229,0.001736278],"category_scores_gemma":[0.00086535,0.0001337935,0.0001863272,0.000374801,0.0004327564,0.0001384042,0.0004032858,0.000186461,0.0001714177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001213219,"about_ca_system_score_gemma":0.0001449322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006021992,"about_ca_topic_score_gemma":0.0007944396,"domain_scores_codex":[0.9996837,0.00004162471,0.00004376754,0.0001144646,0.00006280464,0.00005361453],"domain_scores_gemma":[0.9996265,0.0001284381,0.0001058651,0.00002819387,0.00002802066,0.00008303624],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000887473,0.0001292383,0.4955565,0.0001215293,0.0001848348,0.06164528,0.0005118899,0.0008472095,0.4102528,0.0009652111,0.0004131478,0.02848482],"study_design_scores_gemma":[0.00004675834,0.00030251,0.7539909,0.00003498446,0.0001672227,0.222152,0.0002688224,0.0009356996,0.01961265,0.0007733952,0.001675052,0.00004005316],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998484,0.0001857969,0.0002963668,0.00001947061,0.000002510712,0.000005827407,0.000167265,0.0000199263,0.0008189296],"genre_scores_gemma":[0.9994136,0.0000928664,0.0002555055,0.000008199836,0.000003751295,0.000003909318,0.0001075439,0.000005686744,0.0001090388],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001736278,"threshold_uncertainty_score":0.005808473,"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."}}