{"id":"W4211029027","doi":"10.3389/fgene.2022.780764","title":"Case Report: Two Families With HPDL Related Neurodegeneration","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Latvijas Zinātnes Padome; Eesti Teadusagentuur","keywords":"Proband; Hereditary spastic paraplegia; Disease; Neurodegeneration; Medicine; Genetics; Consanguinity; Biology; Bioinformatics; Pediatrics; Gene; Phenotype; Pathology; Mutation","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":[0.000690703,0.003976332,0.002026949,0.003706105,0.003754668,0.001770853,0.002302707,0.005919469,0.004814039],"category_scores_gemma":[0.004665014,0.001738005,0.001745798,0.00164882,0.002950261,0.001605674,0.003953429,0.003624808,0.001232631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001692572,"about_ca_system_score_gemma":0.0009078931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004750937,"about_ca_topic_score_gemma":0.003112652,"domain_scores_codex":[0.998603,0.0001392456,0.0001390448,0.0005927214,0.0002119052,0.0003140525],"domain_scores_gemma":[0.9976524,0.0005343414,0.0004073292,0.0002479659,0.0002073836,0.0009506532],"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":[0.00005476765,0.0001150281,0.006571855,0.00003340005,0.00002452916,0.9885198,0.0008713146,0.00007251328,0.0008744797,0.0003114132,0.0004230845,0.002127816],"study_design_scores_gemma":[0.00001272681,0.00004434949,0.003099707,0.00001360241,0.00001544428,0.9952598,0.0001626137,0.00007773632,0.0003834197,0.0002452698,0.0006677551,0.00001755415],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9694548,0.004566536,0.009342878,0.004891517,0.0009856905,0.0004865456,0.0009570501,0.0003552813,0.008959759],"genre_scores_gemma":[0.9854474,0.002040807,0.004858756,0.00139335,0.001071951,0.0001673915,0.0003849745,0.000098394,0.00453695],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005919469,"threshold_uncertainty_score":0.01610452,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01830678753771204,"score_gpt":0.2378636505206042,"score_spread":0.2195568629828922,"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."}}