{"id":"W2954711913","doi":"10.1371/journal.pone.0219280","title":"Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse","year":2019,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Canadian Institutes of Health Research; McGill University Health Centre; McGill University","keywords":"Biology; Microcephaly; Mutant; Genetics; Embryo; Mutation; Gene targeting; Exon; Embryonic stem cell; Molecular biology; Gene","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":[0.0001248741,0.00007410533,0.000123846,0.0000559872,0.00002977216,0.000007125715,0.00007547102,0.00005776616,0.00001037177],"category_scores_gemma":[0.00002138194,0.00005966284,0.00002676713,0.00008269161,0.00002284421,0.000006291562,0.00002068209,0.00002803269,0.00000342534],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001279761,"about_ca_system_score_gemma":0.00006357013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006647593,"about_ca_topic_score_gemma":0.0002553322,"domain_scores_codex":[0.9994282,0.00002899678,0.0001933088,0.0001456401,0.0001000475,0.0001037977],"domain_scores_gemma":[0.9995671,0.00001973738,0.0001076603,0.0001595328,0.0001286445,0.00001733254],"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":[0.001777012,0.0002114185,0.03807839,0.000110202,0.00007804632,1.619089e-7,0.0004164815,0.0007574093,0.9584182,0.00009840757,0.00001126995,0.00004302177],"study_design_scores_gemma":[0.0007791695,0.0009468807,0.03943215,0.00003015692,0.00005580446,0.000002043425,0.0001783019,0.00003244519,0.9583883,0.00003635716,0.00004240559,0.00007593898],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981723,0.00004013336,0.0009242646,0.00009405034,0.00002411647,0.0005329102,0.0001430751,0.000003126758,0.00006598928],"genre_scores_gemma":[0.9972361,0.00001516581,0.001628777,0.00004460775,0.0000406794,0.00006950216,0.0002048584,0.0000113131,0.000748962],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001353759,"threshold_uncertainty_score":0.243298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01100210448493775,"score_gpt":0.2085908271561861,"score_spread":0.1975887226712484,"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."}}