{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001469609,0.001922187,0.0008593177,0.001309993,0.001243531,0.0006056859,0.000490902,0.002219184,0.001826527],"category_scores_gemma":[0.0009650867,0.0007046665,0.0005713968,0.0007280993,0.0007843336,0.0007095568,0.0006796172,0.001078568,0.0005263175],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000623571,"about_ca_system_score_gemma":0.0005317448,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003830645,"about_ca_topic_score_gemma":0.003742296,"domain_scores_codex":[0.9997296,0.00002034575,0.00002622448,0.0001020646,0.00003771272,0.00008417264],"domain_scores_gemma":[0.999266,0.0001342089,0.0001485267,0.00002275909,0.00005343754,0.0003749747],"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":[0.00005622221,0.00002491141,0.006867801,0.00002289159,0.000007651228,0.9869228,0.0001944453,0.00004391982,0.005167866,0.00006461659,0.0001278095,0.0004991331],"study_design_scores_gemma":[0.00001634497,0.0001322811,0.0205489,0.000009263284,0.00001802431,0.9774901,0.0000983524,0.0002272509,0.001070464,0.00006753385,0.0003060647,0.00001540525],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956874,0.0005965885,0.0006473011,0.000356118,0.00007748543,0.00004531057,0.0002026512,0.0001057644,0.002281366],"genre_scores_gemma":[0.9985367,0.0002272337,0.0003312909,0.0001214397,0.00008624792,0.000006879639,0.00007522498,0.00001576227,0.0005992264],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003830645,"threshold_uncertainty_score":0.007616699,"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."}}