{"id":"W4400002429","doi":"10.1096/fj.202302651rr","title":"Integrative analysis of <i>Lunatic Fringe</i> variants associated with spondylocostal dysostosis type‐ <scp>III</scp>","year":2024,"lang":"en","type":"article","venue":"The FASEB Journal","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Guelph; University of Alberta","funders":"Japan Society for the Promotion of Science; Women and Children's Health Research Institute; Ministry of Education, Culture, Sports, Science and Technology; Shriners Hospitals for Children; Meijo University; Rare Disease Foundation","keywords":"Genetics; Biology; Missense mutation; Phenotype; Lunatic; Molecular biology; Gene; 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":[0.0002301297,0.0004673454,0.0003086483,0.0009428257,0.0003831115,0.0003253713,0.0002543273,0.0003902229,0.001776732],"category_scores_gemma":[0.0002946747,0.0001298286,0.0006711061,0.0006559479,0.0002312492,0.00007852568,0.0003195577,0.0003693681,0.0005509867],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002193741,"about_ca_system_score_gemma":0.0002382662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001916446,"about_ca_topic_score_gemma":0.003648541,"domain_scores_codex":[0.9997488,0.00002997367,0.00003645516,0.0000770194,0.00007461303,0.00003318093],"domain_scores_gemma":[0.9997922,0.00004302689,0.00007235217,0.00002085862,0.00002793196,0.00004370976],"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":[0.000622854,0.00009921867,0.03281334,0.0001398652,0.0001990829,0.004292415,0.0001860185,0.0003554936,0.9500472,0.0003163822,0.0004436121,0.01048436],"study_design_scores_gemma":[0.0001250939,0.001095217,0.6591578,0.00008662885,0.0009579234,0.03250029,0.0005027265,0.004810846,0.2810772,0.0004752937,0.01914052,0.00007051196],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921869,0.0004937932,0.003157072,0.00006573526,0.00002704939,0.00005721728,0.002612906,0.00007417922,0.001325072],"genre_scores_gemma":[0.9917085,0.0002455576,0.003656576,0.00008062685,0.00001370431,0.00002299531,0.003541901,0.00006546845,0.0006647555],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001916446,"threshold_uncertainty_score":0.005943716,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01289662766071626,"score_gpt":0.2769095038642702,"score_spread":0.264012876203554,"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."}}