{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001458808,0.0009091811,0.0003315804,0.0009384298,0.001387135,0.0003300778,0.0004577959,0.000902715,0.002869738],"category_scores_gemma":[0.0005548804,0.0002475855,0.0005031895,0.0006238436,0.0007935983,0.000112352,0.0003757548,0.0004877274,0.0002636015],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001134858,"about_ca_system_score_gemma":0.001043801,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1851883,"about_ca_topic_score_gemma":0.1603172,"domain_scores_codex":[0.9997582,0.00002266047,0.00002621395,0.00008071247,0.00005602425,0.00005623848],"domain_scores_gemma":[0.9996519,0.00008738246,0.00007291058,0.00001704177,0.00005565587,0.0001151262],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008736406,0.000250242,0.2094669,0.0001809573,0.0002615365,0.5952663,0.004140868,0.0005780024,0.1685435,0.0007164553,0.001896409,0.01782525],"study_design_scores_gemma":[0.0001304511,0.000496534,0.666883,0.00009781111,0.0002344606,0.307593,0.001312285,0.00154747,0.01618143,0.0002168979,0.005219032,0.00008750224],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977869,0.000197881,0.0003876503,0.0001262255,0.00002315765,0.00004481322,0.0004122539,0.00002422634,0.0009969245],"genre_scores_gemma":[0.9986699,0.00006841804,0.0002717942,0.00007856295,0.00001100422,0.000007885731,0.0001723519,0.00001092366,0.0007091975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8148117,"threshold_uncertainty_score":0.3682208,"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."}}