{"id":"W2604266621","doi":"10.1016/j.ymgmr.2017.01.017","title":"Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G &gt; T and c.164C &gt; T mutations in the GM2A gene","year":2017,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Canadian Institutes of Health Research; Fundação para a Ciência e a Tecnologia; Kyowa Hakko Kirin","keywords":"Gangliosidosis; Compound heterozygosity; Heterozygote advantage; Medicine; Juvenile; Genetics; Mutation; Gene; Biology; Internal medicine; Genotype; Disease","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003942838,0.0001462358,0.0002195868,0.0001057219,0.0001459435,0.00009211535,0.0001362042,0.0001229791,0.000002906579],"category_scores_gemma":[0.0002391436,0.000125244,0.00007308603,0.0000724443,0.0001569588,0.000008640468,0.0001403703,0.00008346737,1.951141e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005720683,"about_ca_system_score_gemma":0.00006076414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001116948,"about_ca_topic_score_gemma":0.0001441482,"domain_scores_codex":[0.9986063,0.0001058271,0.000436311,0.0003753662,0.0002464219,0.0002297876],"domain_scores_gemma":[0.9989759,0.00001884629,0.0002428796,0.0005511821,0.0001376613,0.00007355114],"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":[0.0001355352,0.0001818933,0.007750357,0.00005272291,0.00004337956,0.0001843945,0.0004750124,0.0003496864,0.9795323,0.0003617976,0.0001047841,0.01082815],"study_design_scores_gemma":[0.001914044,0.0002859925,0.2946447,0.00002998111,0.00006802132,0.0002505064,0.0001340179,0.001526919,0.6716293,0.002198312,0.02701057,0.0003076565],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926204,0.004090062,0.001864882,0.0003001721,0.00008456645,0.000883838,0.00002262562,0.000002367781,0.0001310942],"genre_scores_gemma":[0.996206,0.0004419808,0.002940991,0.0001065395,0.0000383913,0.0001279916,0.00009065052,0.00001865832,0.00002872354],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.307903,"threshold_uncertainty_score":0.51073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01375121364147614,"score_gpt":0.2896827937749089,"score_spread":0.2759315801334328,"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."}}