{"id":"W4389270265","doi":"10.1002/ajmg.a.63484","title":"An adult patient with <scp>Tatton–Brown–Rahman</scp> syndrome caused by a novel <scp><i>DNMT3A</i></scp> variant and axonal polyneuropathy","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Centre intégré universitaire de santé et de services sociaux de la Mauricie-et-du-Centre-du-Québec; McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Phenotype; Polyneuropathy; Peripheral neuropathy; Medicine; Gene; Neuroscience; Genetics; Biology; Internal medicine; Endocrinology; Diabetes mellitus","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001313633,0.0009838125,0.0005160088,0.0005902849,0.0008508376,0.0003602813,0.0003089095,0.001775038,0.001646989],"category_scores_gemma":[0.0008275806,0.0003529803,0.0004171304,0.0005064351,0.0006045135,0.0005579662,0.0005325744,0.001001712,0.0003547002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003673622,"about_ca_system_score_gemma":0.0003575181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002154334,"about_ca_topic_score_gemma":0.001978554,"domain_scores_codex":[0.9998462,0.00001274886,0.00002118894,0.00005739535,0.0000228467,0.00003952788],"domain_scores_gemma":[0.9996442,0.00009492152,0.00007097291,0.00001671347,0.00002621891,0.0001470159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006438493,0.00003498916,0.01262776,0.00003676952,0.00001267204,0.9757095,0.0003991445,0.000109049,0.007712555,0.0002640054,0.0003695086,0.002659564],"study_design_scores_gemma":[0.0000129892,0.0001551,0.01630458,0.00001277238,0.00001922051,0.9809622,0.0001025029,0.0002792705,0.001321027,0.000163722,0.0006523909,0.00001417602],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906543,0.000809754,0.001835648,0.001366951,0.0001182451,0.00006850487,0.0002109105,0.0001460499,0.004789636],"genre_scores_gemma":[0.9966943,0.0002933728,0.001021706,0.0005908397,0.00009017831,0.00001117046,0.00006279372,0.00001125593,0.001224306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002154334,"threshold_uncertainty_score":0.005509734,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007469872076948829,"score_gpt":0.2411159009027677,"score_spread":0.2336460288258189,"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."}}