{"id":"W3111056332","doi":"10.1186/s10020-020-00245-4","title":"Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease","year":2020,"lang":"en","type":"article","venue":"Molecular Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Biocenter, University of Oulu; Terveyden Tutkimuksen Toimikunta; Sigrid Juséliuksen Säätiö; Biocenter Finland; Oulun Yliopisto; Lastentautien Tutkimussäätiö; Academy of Finland","keywords":"Biology; Missense mutation; Knockout mouse; Heterozygote advantage; Gene isoform; Embryonic stem cell; Disease; Gene; Allele; Hippocampus; Wild type; Genotype; Genetics; Mutation; Cell biology; Molecular biology; Neuroscience; Internal medicine; Medicine; Mutant","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001738575,0.0001234835,0.0002599181,0.0000642719,0.00001379673,0.000002742241,0.0001661936,0.00004375114,0.000002068302],"category_scores_gemma":[0.0005294234,0.00009066327,0.00004334827,0.0001548453,0.0001461821,0.000001608649,0.0001469145,0.00006136629,2.800063e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006921997,"about_ca_system_score_gemma":0.0001639699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001338877,"about_ca_topic_score_gemma":0.00004537936,"domain_scores_codex":[0.9990983,0.00007654849,0.0003030667,0.0002531493,0.0001216642,0.000147286],"domain_scores_gemma":[0.9994812,0.00002030263,0.0000683114,0.0002268904,0.00004390037,0.0001593809],"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":[0.000995329,0.00005720834,0.002616656,0.0001355089,0.00002176762,0.0001070026,0.0004346898,0.005697936,0.9885752,0.0009552753,0.00007939256,0.0003240723],"study_design_scores_gemma":[0.05689739,0.003119532,0.1561966,0.00151691,0.0007599895,0.00006662095,0.001629763,0.1978368,0.5681028,0.009910195,0.001583453,0.002379922],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9894456,0.001354124,0.003577292,0.005235992,0.00001362026,0.0002931492,0.00002964486,0.000002702723,0.00004782137],"genre_scores_gemma":[0.9949819,0.0001865278,0.0005242736,0.004209081,0.00001924593,0.00001998721,0.00003600085,0.00001650237,0.000006418056],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4204724,"threshold_uncertainty_score":0.3697141,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01128303597071976,"score_gpt":0.2314941346301754,"score_spread":0.2202110986594556,"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."}}