{"id":"W4389460246","doi":"10.1212/wnl.96.15_supplement.2093","title":"Bi-allelic variants in the ectonucleotidase ENTPD1 cause a complex neurological disease consisting of intellectual disability, brain abnormalities, and spastic paraplegia (2093)","year":2021,"lang":"en","type":"article","venue":"Neurology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Dalhousie University","funders":"","keywords":"Medicine; Paraplegia; Allele; Spastic; Hereditary spastic paraplegia; Intellectual disability; Neuroscience; Physical medicine and rehabilitation; Genetics; Psychology; Cerebral palsy; Biology; Gene; Spinal cord; Psychiatry; Phenotype","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":[0.0001282285,0.0006340704,0.0002163674,0.0005353614,0.0007792602,0.0003745458,0.0002830116,0.0003865464,0.004180949],"category_scores_gemma":[0.0007083376,0.0001451241,0.00020267,0.000506008,0.0001471311,0.0001758247,0.0005062396,0.0003515924,0.001057466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001897167,"about_ca_system_score_gemma":0.0002289551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003183084,"about_ca_topic_score_gemma":0.004246996,"domain_scores_codex":[0.9998716,0.00001187007,0.00001624233,0.00003904039,0.00002971634,0.00003158841],"domain_scores_gemma":[0.9997833,0.00003740516,0.00005157453,0.00001779255,0.00003411545,0.00007576354],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009999035,0.0005580666,0.7325096,0.00005274694,0.0001558985,0.1348681,0.0009230511,0.0003455515,0.08417784,0.0008926882,0.003520654,0.04099584],"study_design_scores_gemma":[0.0000708818,0.000798274,0.4760169,0.00002308678,0.0001163557,0.4991555,0.0005411927,0.0006897943,0.01021257,0.0005379739,0.01180058,0.00003688036],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965066,0.000235736,0.0006756594,0.0001431506,0.00001773667,0.00002012341,0.0004458455,0.00001725811,0.001937896],"genre_scores_gemma":[0.9944977,0.0002160744,0.0008613043,0.0002478856,0.00003204855,0.00001999226,0.0006229089,0.00001867985,0.003483396],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004180949,"threshold_uncertainty_score":0.01398665,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02799858689913167,"score_gpt":0.2545161243540716,"score_spread":0.2265175374549399,"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."}}