{"id":"W2999557274","doi":"10.1007/s10048-019-00602-4","title":"POLR3A variants with striatal involvement and extrapyramidal movement disorder","year":2020,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; McGill University Health Centre","funders":"Generalitat de Catalunya; Fundación Hesperia; Fundació la Marató de TV3","keywords":"Putamen; Dystonia; Dentate nucleus; Leukodystrophy; Parkinsonism; Globus pallidus; Extrapyramidal symptoms; Compound heterozygosity; Basal ganglia; Pathology; Medicine; Biology; Internal medicine; Neuroscience; Cerebellum; Genetics; Mutation; Psychiatry; Disease; Central nervous system","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":[0.0002197419,0.000905362,0.000440352,0.0007517715,0.0006995725,0.0003917786,0.0003058929,0.000521771,0.002021276],"category_scores_gemma":[0.0007021463,0.0003297737,0.0003416284,0.00083316,0.0006162047,0.0001772685,0.0004131467,0.0003885505,0.0004427816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003156743,"about_ca_system_score_gemma":0.000302377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002690332,"about_ca_topic_score_gemma":0.0055703,"domain_scores_codex":[0.9997244,0.00003248677,0.00004544276,0.0000849305,0.0000553455,0.00005742932],"domain_scores_gemma":[0.9995801,0.00008557879,0.0001690917,0.00002918096,0.00003340206,0.0001027249],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0009611557,0.0001757804,0.4772646,0.0001994611,0.0002662168,0.4410951,0.001434068,0.0002711301,0.06192162,0.0004949972,0.0008033855,0.01511252],"study_design_scores_gemma":[0.0000660999,0.0003447829,0.4394783,0.00003698375,0.0001239075,0.5553663,0.000225975,0.0002295554,0.002612149,0.0001795355,0.001311629,0.00002479382],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973943,0.0006008638,0.0002766851,0.00004446123,0.000006714421,0.00001871601,0.0001701398,0.00002108541,0.001467066],"genre_scores_gemma":[0.9991007,0.0001564069,0.0001911796,0.00006463344,0.0000164637,0.000005373553,0.0001453181,0.00001077351,0.0003093562],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002690332,"threshold_uncertainty_score":0.006761849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01141118347117059,"score_gpt":0.2168671580684547,"score_spread":0.2054559745972842,"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."}}