{"id":"W4285026704","doi":"10.3389/fcell.2022.886316","title":"A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1","year":2022,"lang":"en","type":"article","venue":"Frontiers in Cell and Developmental Biology","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University","funders":"Austrian Science Fund; E-Rare; King Abdulaziz University; McGill University Health Centre; McGill University","keywords":"Internal medicine; Allele; Genotype; Endocrinology; Plasmalogen; Biology; Genetics; Medicine","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":[0.00009281978,0.0001390683,0.0001457732,0.00007329952,0.0001736444,0.00000958834,0.0001613505,0.00006652187,0.00001305442],"category_scores_gemma":[0.00004102075,0.0001169017,0.00002771881,0.0001597674,0.0001647953,0.00000443667,0.0002819818,0.0001001148,5.829842e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003981508,"about_ca_system_score_gemma":0.0001116155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009596087,"about_ca_topic_score_gemma":0.000005401309,"domain_scores_codex":[0.9991617,0.00004543967,0.0001772661,0.0003541223,0.00004199046,0.0002195021],"domain_scores_gemma":[0.9996828,0.0000179352,0.0000495141,0.0001328515,0.00002142835,0.00009546722],"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":[0.001170147,0.00008975148,0.2436838,0.00001995605,0.00002693127,7.438487e-7,0.0001245994,0.00001936832,0.7475508,0.00001758091,0.006582687,0.0007136334],"study_design_scores_gemma":[0.001906377,0.001631147,0.1171195,0.000009596519,0.00008416743,0.0001039902,0.00244655,0.000123017,0.8132389,0.0004689202,0.06205229,0.0008155998],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962643,0.001911835,0.0003144715,0.0004477688,0.0003528655,0.0004373803,0.0002439758,0.000006920346,0.0000205258],"genre_scores_gemma":[0.9955272,0.0004163491,0.003111838,0.0002064293,0.00001489474,0.0001647388,0.0003390939,0.00001549334,0.0002039587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1265644,"threshold_uncertainty_score":0.4767115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008177718672258983,"score_gpt":0.2205404402722534,"score_spread":0.2123627215999945,"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."}}