{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000234631,0.0006347256,0.0004690473,0.001262998,0.0003836201,0.0003899732,0.0003093156,0.0005541954,0.005709942],"category_scores_gemma":[0.001057265,0.0001578051,0.0003600578,0.0004955721,0.0003994194,0.0002629905,0.0003884897,0.0002659091,0.0006719211],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001320265,"about_ca_system_score_gemma":0.0001484544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001212631,"about_ca_topic_score_gemma":0.0006387935,"domain_scores_codex":[0.9996359,0.00004607822,0.00004386766,0.0001345616,0.00006140016,0.0000781351],"domain_scores_gemma":[0.9995545,0.0001585297,0.00009046831,0.00002665245,0.00005511778,0.00011474],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002768686,0.0002351852,0.8406157,0.00004311881,0.000155816,0.05333425,0.0009266706,0.0006271887,0.07970357,0.0008395928,0.0005524831,0.02019776],"study_design_scores_gemma":[0.00005152303,0.0005289795,0.8930631,0.00003349823,0.0001458072,0.09930593,0.0006065555,0.0008284071,0.003311668,0.0009205515,0.001169805,0.00003428624],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978047,0.0001853996,0.0002001545,0.00005190264,0.000006427406,0.000006618874,0.0002761487,0.00001140591,0.001457263],"genre_scores_gemma":[0.9990883,0.0000860766,0.0001168908,0.00002656619,0.000008546928,0.00000395596,0.0001942936,0.00001035146,0.0004649908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005709942,"threshold_uncertainty_score":0.01910168,"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."}}