{"id":"W2981654653","doi":"10.1002/mgg3.1000","title":"HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Royal Victoria Hospital; Université Laval; Université de Sherbrooke","funders":"","keywords":"Proband; Missense mutation; Founder effect; Phenotype; Genetics; Haplotype; Asymptomatic; Mitochondrial disease; Compound heterozygosity; Disease; Allele; Medicine; Clinical phenotype; Biology; Mitochondrial DNA; Mutation; Pathology; 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":[0.0003053268,0.001500348,0.0006029322,0.001901121,0.005269933,0.0009234344,0.0009648426,0.001161037,0.008490099],"category_scores_gemma":[0.001240405,0.0003246794,0.0006495558,0.002009945,0.0009663362,0.0002727723,0.0006080223,0.0007851166,0.000560316],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.009748429,"about_ca_system_score_gemma":0.008896168,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9551151,"about_ca_topic_score_gemma":0.9480604,"domain_scores_codex":[0.9995628,0.00002844692,0.00003178402,0.0001443796,0.0001040237,0.0001284984],"domain_scores_gemma":[0.9991785,0.0001213909,0.0001110129,0.00003030299,0.0002833027,0.0002755307],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001133047,0.0002877414,0.7969158,0.0002834982,0.0003223737,0.1177416,0.009312656,0.000724083,0.02095261,0.002033245,0.00963298,0.04066028],"study_design_scores_gemma":[0.0001642303,0.0002555015,0.9026062,0.0002187748,0.0002800783,0.07575888,0.002904536,0.001231521,0.001253184,0.00026848,0.01491771,0.000140869],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9841782,0.001608362,0.0006421035,0.0008930258,0.00008828907,0.0001178877,0.002403934,0.0000745278,0.009993511],"genre_scores_gemma":[0.9948286,0.0005895498,0.0005389564,0.000295299,0.00004012982,0.00002538851,0.0006724814,0.00002874087,0.00298087],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04488486,"threshold_uncertainty_score":0.09029835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008242392701472387,"score_gpt":0.252325974358807,"score_spread":0.2440835816573347,"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."}}