{"id":"W1977996697","doi":"10.1046/j.1365-2141.2003.04685.x","title":"Transcobalamin deficiency due to activation of an intra exonic cryptic splice site","year":2003,"lang":"en","type":"article","venue":"British Journal of Haematology","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Exon; Splice site mutation; Intron; RNA splicing; Biology; Point mutation; Genetics; splice; Mutation; Vitamin B12; Gene; Genetic disorder; Frameshift mutation; Alternative splicing; Endocrinology; 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":[0.0001556641,0.001022373,0.0004572749,0.0006147622,0.0006643295,0.0003043631,0.0003147682,0.0008405016,0.002271108],"category_scores_gemma":[0.0009342707,0.0003224648,0.0003299208,0.0003581624,0.0007469335,0.0002752377,0.0005628703,0.0006510628,0.0005538205],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003562725,"about_ca_system_score_gemma":0.0003812209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001314648,"about_ca_topic_score_gemma":0.0008934567,"domain_scores_codex":[0.99977,0.00002234574,0.0000353638,0.00007403996,0.00005678487,0.00004154375],"domain_scores_gemma":[0.9995195,0.0001350134,0.0001300937,0.00004076113,0.00004718694,0.0001274711],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0007638044,0.0002116096,0.04779552,0.0002706576,0.0001064697,0.719323,0.001803843,0.0001958155,0.2060919,0.001541744,0.0009082516,0.02098729],"study_design_scores_gemma":[0.00007465125,0.0004909671,0.01755277,0.00001621347,0.00008632355,0.9524379,0.0001528999,0.0003284544,0.02578732,0.000271449,0.002783934,0.00001722008],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942724,0.000693683,0.002142784,0.0001352624,0.00007229594,0.00003653623,0.0001149626,0.00006912443,0.00246311],"genre_scores_gemma":[0.9971601,0.0003198342,0.000725056,0.00009102852,0.00003955103,0.00001003614,0.00008960076,0.00002450595,0.001540306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002271108,"threshold_uncertainty_score":0.007597625,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0169455679132093,"score_gpt":0.2959083558901258,"score_spread":0.2789627879769165,"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."}}