{"id":"W2116288639","doi":"10.1002/humu.9193","title":"ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Neurofibromatosis; Biology; Missense mutation; Mutation; Genetics; Cancer research; Gene; Neurofibroma; Malignant peripheral nerve sheath tumor; RNA splicing; RNA","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":[0.000219024,0.0004556355,0.0003201627,0.001368077,0.0008428431,0.0004655329,0.0002746879,0.0005463799,0.001987003],"category_scores_gemma":[0.00263907,0.0003045122,0.0001229721,0.0008008319,0.0005536468,0.0004125605,0.0003528128,0.0002331054,0.0002681505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003048544,"about_ca_system_score_gemma":0.0001647788,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001284535,"about_ca_topic_score_gemma":0.00184821,"domain_scores_codex":[0.9996403,0.00006250316,0.00005043322,0.00009043044,0.00007764829,0.00007857392],"domain_scores_gemma":[0.9993436,0.0001973578,0.0002247569,0.00003350556,0.00005735294,0.0001434961],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002244926,0.00004451824,0.9721408,0.00001708616,0.00002265585,0.01702464,0.0003637635,0.00009026692,0.00513307,0.0000445374,0.0001925421,0.004701687],"study_design_scores_gemma":[0.000046884,0.0002656555,0.826945,0.00002202323,0.00006451441,0.1683047,0.0006336628,0.0003764174,0.002239797,0.0001948854,0.0008874079,0.00001898687],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999456,0.0002109435,0.00003115009,0.00002212011,0.000002302602,0.000002878217,0.00003314161,0.000002924395,0.0002385086],"genre_scores_gemma":[0.9997609,0.00007889939,0.000053035,0.00001111043,0.00000782076,0.000002310507,0.00003406874,9.690189e-7,0.00005073619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001987003,"threshold_uncertainty_score":0.006647229,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01733398223650544,"score_gpt":0.2528745964125139,"score_spread":0.2355406141760085,"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."}}