{"id":"W3157363683","doi":"10.1038/s41467-021-22627-w","title":"Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Alberta Children's Hospital; University of Calgary","funders":"National Institute of Child Health and Human Development; Center for Research Computing, University of Pittsburgh; Fundación Hesperia; Northwestern University; National Institute of Neurological Disorders and Stroke; Generalitat de Catalunya; Waisman Center; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; University of Pittsburgh; National Institutes of Health; Feinberg School of Medicine; Action Medical Research; Yale University; National Human Genome Research Institute; Agence Nationale de la Recherche; Howard Hughes Medical Institute","keywords":"snRNP; Biology; Hypotonia; Ribonucleoprotein; Phenotype; Mutation; RNA-binding protein; Genetics; Ataxia; Neurodevelopmental disorder; RNA splicing; Cell biology; Gene; Neuroscience; RNA","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":[0.0001476994,0.0006988691,0.000197881,0.0004178514,0.0002770804,0.0001728406,0.0001765994,0.0003623437,0.001141015],"category_scores_gemma":[0.0002838969,0.000110733,0.00017636,0.0002146766,0.0002837378,0.0001231166,0.0003650196,0.0001788043,0.0002037245],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002176033,"about_ca_system_score_gemma":0.0001433948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008794378,"about_ca_topic_score_gemma":0.001851213,"domain_scores_codex":[0.9998909,0.0000150252,0.00001700455,0.00003493163,0.00002690241,0.00001513803],"domain_scores_gemma":[0.9999235,0.00001695908,0.00002622954,0.000003991401,0.000004773712,0.00002453279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006038272,0.0000745823,0.05182998,0.0001446896,0.0002265594,0.02359992,0.0002518747,0.000627678,0.9011354,0.0007265003,0.000578978,0.02020002],"study_design_scores_gemma":[0.00009708399,0.0006961501,0.5308823,0.00008150552,0.0005199176,0.09671937,0.0003412293,0.003506442,0.3529628,0.0006500967,0.01350614,0.00003703576],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962581,0.0008671639,0.001598084,0.00006944304,0.00001165077,0.00001054757,0.0002653965,0.00005744723,0.0008620854],"genre_scores_gemma":[0.9980091,0.0002705617,0.001004544,0.00003805965,0.000003957578,0.000003122425,0.0002554613,0.000007957728,0.0004072628],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001141015,"threshold_uncertainty_score":0.003817081,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01526836743297851,"score_gpt":0.3117487586893506,"score_spread":0.2964803912563721,"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."}}