{"id":"W2584940462","doi":"10.1016/j.ymgme.2016.11.284","title":"Combined deficiencies of endosomal ganglioside neuraminidases 3 and 4 in mice cause lysosomal GM3 gangliosidosis","year":2017,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Exome sequencing; Ptosis; Phenotype; Biology; Intellectual disability; Genetics; Exon; Gene","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":[0.0004812328,0.003147352,0.0009521233,0.003911779,0.0007601673,0.001060835,0.000981877,0.00199915,0.00446492],"category_scores_gemma":[0.000551382,0.001316171,0.001174894,0.001080905,0.002125971,0.0009549164,0.0014124,0.002035759,0.001611991],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001811591,"about_ca_system_score_gemma":0.001141123,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002922999,"about_ca_topic_score_gemma":0.005229705,"domain_scores_codex":[0.99889,0.000130279,0.0001672179,0.0002087591,0.0003490916,0.0002547096],"domain_scores_gemma":[0.9984109,0.0002036847,0.0007553766,0.0001094213,0.00006737723,0.0004531709],"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":[0.001040938,0.00008949767,0.0006431044,0.0000466314,0.00006022059,0.0007306235,0.00005477226,0.0002806754,0.9952019,0.000648438,0.000106377,0.001096716],"study_design_scores_gemma":[0.0002446069,0.0003860528,0.005427408,0.00003625882,0.0002490194,0.002953345,0.0001582736,0.001326042,0.9865123,0.0006778191,0.001989123,0.00003982757],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886003,0.001108094,0.004035793,0.0003318123,0.00007189922,0.00007224136,0.002056713,0.0007317504,0.002991444],"genre_scores_gemma":[0.983018,0.001043447,0.005537573,0.0001520801,0.00004978486,0.0001100052,0.001301566,0.0004888278,0.008298735],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00446492,"threshold_uncertainty_score":0.01493669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01535890389209998,"score_gpt":0.2727108600495645,"score_spread":0.2573519561574645,"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."}}