{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00023861,0.001223115,0.0004613804,0.001521207,0.0004113627,0.000375176,0.0006228588,0.001145967,0.003324464],"category_scores_gemma":[0.0002197989,0.0003639183,0.0006155499,0.0003602871,0.0006737557,0.0002575129,0.0003576303,0.001209011,0.0006335211],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007414646,"about_ca_system_score_gemma":0.000432911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002604704,"about_ca_topic_score_gemma":0.003793437,"domain_scores_codex":[0.999567,0.00002832646,0.00005269296,0.0001704633,0.0001120344,0.00006961064],"domain_scores_gemma":[0.9995468,0.00004707613,0.0001667452,0.00003840424,0.00003660482,0.0001643485],"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":[0.0003078756,0.00009496263,0.0005539203,0.0000513836,0.00002702022,0.001042366,0.00003971568,0.00009891138,0.9966779,0.0001314145,0.0001517229,0.0008230099],"study_design_scores_gemma":[0.0002484731,0.001151442,0.02549497,0.00006431594,0.0002104023,0.01191594,0.0002079179,0.00251447,0.9523919,0.0002157648,0.005538039,0.00004630343],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920231,0.0008043394,0.002654207,0.0002024904,0.00008169455,0.00007707933,0.002020646,0.0003153993,0.001820884],"genre_scores_gemma":[0.9858931,0.0007140205,0.004098811,0.0001843841,0.00002346621,0.0002130813,0.002001037,0.0001565546,0.006715567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003324464,"threshold_uncertainty_score":0.01112139,"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."}}