{"id":"W4402094105","doi":"10.1002/ajmg.a.63858","title":"Intrafamilial Phenotypic Variability in <scp>SYNE1</scp>‐Related Disorder","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Genetics; Spinocerebellar ataxia; Hereditary spastic paraplegia; Phenotype; Muscular dystrophy; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0004088542,0.001022977,0.0004686456,0.001891623,0.0006931006,0.0005326043,0.0004967433,0.0005329621,0.009574535],"category_scores_gemma":[0.002070856,0.0001804043,0.0003924915,0.001176569,0.0004865656,0.0003147268,0.0009026544,0.0005578216,0.001127226],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002895695,"about_ca_system_score_gemma":0.0003121875,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003596964,"about_ca_topic_score_gemma":0.004522447,"domain_scores_codex":[0.9991385,0.0001135805,0.00008175161,0.0003514546,0.0002272763,0.00008746803],"domain_scores_gemma":[0.9991062,0.0003589594,0.0002026127,0.00006644268,0.0001524165,0.0001132768],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008559362,0.0002487733,0.6521088,0.0004210087,0.0006457751,0.1247747,0.006416103,0.001088202,0.1040351,0.002503728,0.01562377,0.09127812],"study_design_scores_gemma":[0.00002979339,0.0001536782,0.6861612,0.0002401362,0.0002190706,0.2937278,0.001354793,0.0006383412,0.003923383,0.001438561,0.01203022,0.00008299953],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856107,0.001286162,0.001650107,0.0002477532,0.00004570769,0.00004600432,0.002103913,0.0001473035,0.008862183],"genre_scores_gemma":[0.9945438,0.0007706459,0.001037753,0.0001726787,0.00003451,0.00003799551,0.001695354,0.0001073621,0.001599874],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009574535,"threshold_uncertainty_score":0.03202999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003584858167911683,"score_gpt":0.2409099729692538,"score_spread":0.2373251148013421,"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."}}