{"id":"W1996770886","doi":"10.1007/s10048-013-0378-5","title":"SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia","year":2013,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":64,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Sanger sequencing; Genetics; Biology; Dystonia; Exome sequencing; Copy-number variation; Mutation; Gene; Neuroscience; Genome","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":[0.0003548089,0.001327663,0.0005725586,0.001679622,0.0009015498,0.0004747859,0.0008155276,0.002114895,0.003660154],"category_scores_gemma":[0.001602296,0.0003777881,0.0004758874,0.001046463,0.000985342,0.0003769493,0.0007489527,0.0005266992,0.0003820489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004665135,"about_ca_system_score_gemma":0.0004088425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003739296,"about_ca_topic_score_gemma":0.003227042,"domain_scores_codex":[0.9996206,0.00005785435,0.00007409854,0.00008985423,0.00007915562,0.00007842034],"domain_scores_gemma":[0.9993407,0.0003171521,0.000148465,0.00002681713,0.00004267595,0.0001242442],"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":[0.001133268,0.00007701404,0.03464206,0.00007801392,0.00008661341,0.8844496,0.0005481316,0.0004059355,0.07461654,0.0003668001,0.0003965771,0.003199541],"study_design_scores_gemma":[0.0002767851,0.0003372693,0.1751875,0.00008412401,0.0004333078,0.7895986,0.0006782552,0.002630049,0.02737417,0.0009618801,0.002371865,0.00006618377],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965347,0.0005177959,0.0004614569,0.0002758859,0.00004116103,0.00001741522,0.0002207866,0.00002663848,0.001904203],"genre_scores_gemma":[0.9990375,0.00009658017,0.0002778647,0.00007390723,0.00003766067,0.000008033736,0.00009601832,0.00001061623,0.0003619364],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003739296,"threshold_uncertainty_score":0.0122444,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005873428546122234,"score_gpt":0.2086544658138325,"score_spread":0.2027810372677103,"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."}}