{"id":"W4396664431","doi":"10.1002/jimd.12745","title":"Human genetic defects of sphingolipid synthesis","year":2024,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"CHU Sainte-Justine Foundation; Université Toulouse III - Paul Sabatier; Institut National de la Santé et de la Recherche Médicale","keywords":"Sphingolipid; Biology; Sphingomyelin; Ceramide; Phenotype; Enzyme; Subcellular localization; Function (biology); Niemann–Pick disease; Disease; Gene; Cell biology; Biochemistry; Cholesterol; Internal medicine; Medicine","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":[0.0002531996,0.0008354783,0.000731949,0.001410929,0.0001561331,0.000435523,0.0005079389,0.0006452768,0.003028814],"category_scores_gemma":[0.0003749831,0.0001458355,0.0002838931,0.001192733,0.0003495649,0.0004112582,0.0004600289,0.0008615137,0.001943623],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004087729,"about_ca_system_score_gemma":0.0005402628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007689913,"about_ca_topic_score_gemma":0.0007773297,"domain_scores_codex":[0.9998828,0.00001598651,0.00001577536,0.00002248491,0.00004641672,0.00001657307],"domain_scores_gemma":[0.9998996,0.00004026297,0.00001587169,0.00000472236,0.00002670313,0.00001287908],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009155524,0.00003728488,0.0004439857,0.005276532,0.00006455276,0.001193236,0.00003544682,0.000243253,0.003857856,0.003104727,0.02981103,0.9558405],"study_design_scores_gemma":[0.00002322384,0.00006618242,0.001625675,0.002039763,0.00009700079,0.01129418,0.00004017951,0.00007672515,0.001726949,0.002229544,0.9807648,0.00001567535],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004498872,0.9958751,0.0003320298,0.0002605128,0.0001748555,0.000005454922,0.00004222381,0.00002795578,0.002831973],"genre_scores_gemma":[0.002774264,0.9950758,0.0003255454,0.0001989554,0.0001344118,0.000007139914,0.00008576288,0.000002928706,0.00139524],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003028814,"threshold_uncertainty_score":0.01013237,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02776290407174914,"score_gpt":0.3247238454486376,"score_spread":0.2969609413768884,"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."}}