{"id":"W3133290191","doi":"10.1002/jmd2.12196","title":"A founder mutation in the <scp><i>PLPBP</i></scp> gene in families from <scp>Saguenay‐Lac‐St‐Jean</scp> region affected by a pyridoxine‐dependent epilepsy","year":2021,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"","keywords":"Epilepsy; Founder effect; Haplotype; Medicine; Proband; Context (archaeology); Mutation; Pediatrics; Genetics; Internal medicine; Biology; Genotype; Gene; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005687124,0.0003676949,0.0004053943,0.0001177453,0.0000907231,0.0001069484,0.0002481393,0.0003587786,0.00001169735],"category_scores_gemma":[0.001350805,0.0003171224,0.0001777124,0.0004540845,0.0001046328,0.00001648834,0.0001473699,0.0002589223,0.000009749095],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001823508,"about_ca_system_score_gemma":0.0001957253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001075011,"about_ca_topic_score_gemma":0.002668192,"domain_scores_codex":[0.9968175,0.0004093242,0.0007500467,0.000999065,0.0004875611,0.0005365398],"domain_scores_gemma":[0.9982076,0.000169202,0.0003683569,0.001007252,0.0001377375,0.000109841],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001881185,0.001260974,0.1026318,0.0001008882,0.0002590832,0.00462195,0.003589201,0.001444957,0.7839152,0.00003893568,0.09533568,0.006782531],"study_design_scores_gemma":[0.003627372,0.0002727874,0.3327751,0.000113387,0.0002137569,0.001311426,0.01006184,0.0003212979,0.451625,0.003598669,0.1957149,0.0003645106],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9849558,0.009996797,0.001410231,0.0002578167,0.000566535,0.0005383074,0.0000312144,0.00002636381,0.002216939],"genre_scores_gemma":[0.9916846,0.002013827,0.0003237196,0.0009497033,0.0002444121,0.0001659347,0.001977666,0.00005223641,0.002587907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3322902,"threshold_uncertainty_score":0.9999281,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007432102846869604,"score_gpt":0.2239181273070834,"score_spread":0.2164860244602138,"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."}}