{"id":"W4394566957","doi":"10.3390/genes15040461","title":"Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Provincial Health Services Authority","keywords":"Frameshift mutation; Ehlers–Danlos syndrome; Characterization (materials science); Genetics; Gene; Medicine; Biology; Chemistry; Dermatology; Mutation; Materials science; Nanotechnology","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":[0.0002332655,0.0001468463,0.000282677,0.0001144466,0.00002464785,0.00002948942,0.0001065606,0.0001743189,0.00001550145],"category_scores_gemma":[0.0002168037,0.0001315291,0.0000456179,0.0003906354,0.0001172659,0.000006006943,0.0001155467,0.0001447657,0.0000036987],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001140946,"about_ca_system_score_gemma":0.0001647496,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000585354,"about_ca_topic_score_gemma":0.0001290351,"domain_scores_codex":[0.998632,0.00009705986,0.0004003065,0.0005030312,0.000157318,0.0002103262],"domain_scores_gemma":[0.9993652,0.00003773784,0.00006973268,0.0003031346,0.0001263245,0.00009791427],"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":[0.0003985927,0.0004189638,0.03744575,0.0002209911,0.0003750797,0.002419481,0.000392135,0.0001315501,0.9457618,0.00009196725,0.0001015337,0.01224216],"study_design_scores_gemma":[0.008931855,0.01591565,0.732897,0.002471046,0.0006813738,0.01166074,0.001345087,0.02237014,0.1579633,0.0001297623,0.04270746,0.002926561],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943103,0.002140323,0.002615553,0.0002335592,0.0001040555,0.0005182935,0.00002831221,0.00001866766,0.00003097099],"genre_scores_gemma":[0.9988754,0.0002301664,0.0003906891,0.00005224134,0.0000173764,0.00003349591,0.0002215334,0.00003066488,0.0001483968],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7877985,"threshold_uncertainty_score":0.5363601,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03528229682694244,"score_gpt":0.3441212466720142,"score_spread":0.3088389498450718,"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."}}