{"id":"W6991706134","doi":"","title":"Identification et modélisation cellulaire d'une mutation homozygote non-sens identifiée dans le gène MLIP causant une myopathie distale à apparition tardive","year":2023,"lang":"fr","type":"dissertation","venue":"Papyrus : Institutional Repository (Université de Montréal)","topic":"Inflammatory Myopathies and Dermatomyositis","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Courtois Foundation; Fondation du Grand défi Pierre Lavoie; Université de Montréal; Rare Disease Foundation","keywords":"Electrodiagnosis; Diagnostic test; LMNA","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005500462,0.0005384021,0.0006782322,0.0006897029,0.0006564316,0.001955217,0.001327046,0.002094842,0.00408471],"category_scores_gemma":[0.0007151114,0.0006635705,0.001826132,0.000479315,0.0005848542,0.0006557051,0.0005500443,0.001099979,0.001919301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001529687,"about_ca_system_score_gemma":0.001039613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01698865,"about_ca_topic_score_gemma":0.01025639,"domain_scores_codex":[0.9997106,0.00003113097,0.00001819743,0.00009489707,0.0000927859,0.00005229804],"domain_scores_gemma":[0.9997377,0.0001214422,0.00003699914,0.00003736865,0.0000448957,0.00002166476],"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":[0.0007224315,0.000211161,0.01278877,0.00110149,0.0001755574,0.001401163,0.0006015226,0.1513023,0.7952369,0.009524608,0.003805533,0.0231285],"study_design_scores_gemma":[0.00008070815,0.0002610355,0.008094252,0.0001267163,0.0001402403,0.000417213,0.0003324925,0.7562246,0.210204,0.002777085,0.0212605,0.00008101846],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7140369,0.004006988,0.2498024,0.002080506,0.0006672473,0.0003038964,0.01015002,0.005472155,0.01347976],"genre_scores_gemma":[0.8366277,0.003828114,0.131342,0.0003334401,0.00005110145,0.0004946797,0.01146879,0.0005969655,0.01525728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01698865,"threshold_uncertainty_score":0.0337795,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005205708403376265,"score_gpt":0.1932612054192737,"score_spread":0.1880554970158975,"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."}}