{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002692973,0.001308095,0.0004780181,0.002592117,0.0003482839,0.0003199796,0.0005414235,0.0008983056,0.00337649],"category_scores_gemma":[0.000265898,0.0004228453,0.0005105172,0.0004621084,0.0006137201,0.0003793328,0.0005861343,0.001217598,0.000822297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003026042,"about_ca_system_score_gemma":0.0002170733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000659136,"about_ca_topic_score_gemma":0.001217703,"domain_scores_codex":[0.9995415,0.00004298892,0.00008546987,0.0001595112,0.00009847771,0.0000721284],"domain_scores_gemma":[0.9993762,0.00008005919,0.000226129,0.00005289495,0.00005383486,0.0002108573],"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":[0.0003487647,0.0002162592,0.00121153,0.00002939845,0.00001608406,0.0004037993,0.00004462064,0.00005421434,0.9960766,0.0001243546,0.00007488852,0.001399411],"study_design_scores_gemma":[0.0002769776,0.004636874,0.08714249,0.00009842261,0.0002397267,0.01488707,0.0003525338,0.002596448,0.8832178,0.0004696505,0.006007157,0.000074822],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942011,0.0005086748,0.002343864,0.0001392718,0.0000276631,0.00007564318,0.001701371,0.0001292362,0.0008731656],"genre_scores_gemma":[0.9766,0.001386583,0.006790364,0.0001752724,0.0000300519,0.0002939798,0.004756766,0.0002065749,0.009760468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00337649,"threshold_uncertainty_score":0.01129544,"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."}}