{"id":"W2949192741","doi":"10.1016/j.ymgmr.2019.100483","title":"Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotchkiss Brain Institute; University of Calgary; University of Saskatchewan; Alberta Children's Hospital; Royal University Hospital","funders":"","keywords":"Neurodegeneration; Rett syndrome; Autism spectrum disorder; Phenotype; Pediatrics; Autism; Medicine; Encephalopathy; Neuroscience; Cognition; Epilepsy; Bioinformatics; Psychology; Disease; Psychiatry; Pathology; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0003803489,0.0005632135,0.0003876816,0.0004542051,0.001265671,0.0004703074,0.0004045108,0.0004679316,0.002447912],"category_scores_gemma":[0.0008365095,0.00015914,0.0004024121,0.0005736959,0.0004184669,0.0003878198,0.0009496545,0.0007518908,0.0009010655],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008020304,"about_ca_system_score_gemma":0.001027598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005520849,"about_ca_topic_score_gemma":0.01672303,"domain_scores_codex":[0.9997235,0.00003799787,0.00002879911,0.00007816676,0.00004481267,0.00008669287],"domain_scores_gemma":[0.9992311,0.00005210399,0.00007723056,0.00004571323,0.00007744555,0.0005165236],"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":[0.0006351252,0.002189255,0.3613304,0.0001776293,0.0001914689,0.4247469,0.005624296,0.001194527,0.01123602,0.0008250308,0.01472626,0.1771231],"study_design_scores_gemma":[0.0001058564,0.002976912,0.09748226,0.0001493367,0.00008236359,0.8784198,0.002739889,0.001353568,0.003774456,0.0006228129,0.01220744,0.00008527441],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856148,0.001208972,0.002333896,0.001128026,0.0001506611,0.00007895978,0.0001645228,0.0001375002,0.009182704],"genre_scores_gemma":[0.9931473,0.001163703,0.002095603,0.0005814621,0.0001306969,0.00002181318,0.0001918409,0.0000544854,0.002613008],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005520849,"threshold_uncertainty_score":0.01097745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01732206119948655,"score_gpt":0.2245992070293874,"score_spread":0.2072771458299009,"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."}}