{"id":"W2610390638","doi":"10.1038/ejhg.2017.65","title":"Genotype and phenotype spectrum of NRAS germline variants","year":2017,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Conselho Nacional de Desenvolvimento Científico e Tecnológico; Bundesministerium für Bildung und Forschung; Ministero della Salute; Fundação de Amparo à Pesquisa do Estado de São Paulo; Deutsche Forschungsgemeinschaft; Associazione Italiana per la Ricerca sul Cancro; E-Rare","keywords":"Neuroblastoma RAS viral oncogene homolog; HRAS; Germline; Biology; Costello syndrome; Genetics; Noonan syndrome; KRAS; Germline mutation; Missense mutation; Phenotype; Cancer research; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004759683,0.0001300878,0.0001857967,0.00004091846,0.0001613093,0.00005433616,0.0005329863,0.00002978084,0.0000301527],"category_scores_gemma":[0.0001450364,0.000118955,0.00006725731,0.00001597041,0.0001996229,0.000006251069,0.000293145,0.0001072388,0.000005314565],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004393779,"about_ca_system_score_gemma":0.00004199732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002915565,"about_ca_topic_score_gemma":0.000005468634,"domain_scores_codex":[0.9990522,0.0001073322,0.0003937938,0.0001499375,0.000142689,0.000154057],"domain_scores_gemma":[0.9985175,0.000004960149,0.0007024921,0.0005361694,0.0001375074,0.000101418],"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":[0.0001618045,0.00008875634,0.006544034,0.00003738726,0.0001404142,0.0001307222,0.00007048958,0.00003718374,0.9827505,0.0006398233,0.001811261,0.007587589],"study_design_scores_gemma":[0.001314644,0.001990057,0.2876489,0.00005641714,0.00007577972,0.000117902,0.00001161001,0.000007677892,0.6998426,0.0004598577,0.008272814,0.0002017516],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822359,0.01487762,0.0009303579,0.0001100709,0.00018956,0.00007127991,0.00002192696,0.000002336017,0.001560932],"genre_scores_gemma":[0.9953107,0.0007589046,0.003078075,0.00005214308,0.0005997038,1.412592e-7,0.000007982854,0.00003473658,0.0001576692],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2829079,"threshold_uncertainty_score":0.4850843,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01733516351166063,"score_gpt":0.2642330021807928,"score_spread":0.2468978386691322,"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."}}