{"id":"W3085983645","doi":"10.1007/s00439-020-02224-5","title":"Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant","year":2020,"lang":"en","type":"letter","venue":"Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé; Institut de recherche, Centre universitaire de santé McGill","keywords":"Biology; Human genetics; Genetics; Molecular medicine; splice; Encephalopathy; RNA splicing; Bioinformatics; Computational biology; Gene; Internal medicine; RNA; Medicine; Cell cycle","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0007375439,0.001258341,0.00100896,0.0007438914,0.001804753,0.00103375,0.001386174,0.01487891,0.002786606],"category_scores_gemma":[0.004961343,0.0005586277,0.0009693275,0.0006849435,0.001963796,0.001212563,0.0009126637,0.005890259,0.0009355364],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001905518,"about_ca_system_score_gemma":0.0007822281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00203098,"about_ca_topic_score_gemma":0.002257064,"domain_scores_codex":[0.9994764,0.0001237239,0.00006025506,0.0001087345,0.00008657883,0.0001443149],"domain_scores_gemma":[0.9983931,0.0008784899,0.0001682011,0.0001085245,0.0001058758,0.0003457269],"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":[0.0001904039,0.0000297895,0.002169641,0.00003626984,0.00002097864,0.9812436,0.0000917169,0.0001279955,0.0009256473,0.001349766,0.01190956,0.001904585],"study_design_scores_gemma":[0.0002672854,0.0002499725,0.01067288,0.00007670038,0.0000917383,0.9563853,0.0002481692,0.002923232,0.001878083,0.007301917,0.01984073,0.00006399518],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4765053,0.006340048,0.004923302,0.3989894,0.02469049,0.0002653014,0.0008444896,0.0004927455,0.08694895],"genre_scores_gemma":[0.8952417,0.001485392,0.001899467,0.05510247,0.0292102,0.00008343391,0.0002091312,0.00009888198,0.01666932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01487891,"threshold_uncertainty_score":0.01382554,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01633343428398671,"score_gpt":0.2407479103999445,"score_spread":0.2244144761159578,"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."}}