{"id":"W1996821620","doi":"10.1016/j.ajhg.2014.10.016","title":"Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":71,"is_retracted":false,"has_abstract":false,"ca_institutions":"Queen's University; Krembil Foundation; University of Toronto; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Howard Hughes Medical Institute","keywords":"Genetics; Formins; Mutation; Biology; Gene; Actin cytoskeleton","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006059051,0.0001824009,0.0002327035,0.00005559713,0.0002693571,0.00004236029,0.0005591917,0.00003777793,0.00001276639],"category_scores_gemma":[0.0002772321,0.0001216462,0.0001162533,0.0001927289,0.0007141409,0.000005129241,0.0001550918,0.0002601605,0.000002668315],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004155578,"about_ca_system_score_gemma":0.0001214507,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002362041,"about_ca_topic_score_gemma":0.0001825153,"domain_scores_codex":[0.9984365,0.0003499002,0.000520656,0.0002031776,0.0002200896,0.0002696889],"domain_scores_gemma":[0.9988061,0.000117193,0.0005457471,0.0003729305,0.00008625344,0.00007174018],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00008693513,0.0001321399,0.007356391,0.00001141161,0.0000819639,0.000002340824,0.002440675,0.001459089,0.9634472,0.00002970604,0.00010686,0.02484534],"study_design_scores_gemma":[0.002227382,0.005013969,0.5716327,0.0001597792,0.0001771076,0.0003654846,0.01050408,0.001616603,0.4030435,0.001776444,0.00253561,0.0009472993],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986842,0.0001666821,0.0003166856,0.0004002944,0.00007419413,0.0002369606,0.000002577847,0.00000359418,0.000114762],"genre_scores_gemma":[0.9989452,0.00007795648,0.0006036978,0.0001930859,0.00008329355,0.00001418382,0.000005175779,0.00002781432,0.00004963737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5642763,"threshold_uncertainty_score":0.4960589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01595578087293503,"score_gpt":0.270287106485051,"score_spread":0.254331325612116,"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."}}