{"id":"W3197532661","doi":"10.5812/gct.115993","title":"Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report","year":2021,"lang":"en","type":"article","venue":"Gene Cell and Tissue","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Proband; Limb-girdle muscular dystrophy; Muscular dystrophy; Exome sequencing; Genetics; Sanger sequencing; Genetic counseling; Medicine; Biology; Mutation; Gene","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":[0.0004913911,0.002556548,0.001969198,0.005069718,0.003529425,0.002513998,0.001926914,0.007440547,0.004092339],"category_scores_gemma":[0.002757709,0.001648029,0.001560348,0.002134474,0.002850018,0.002166299,0.002546338,0.003073476,0.001252122],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001886809,"about_ca_system_score_gemma":0.0009706583,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003337457,"about_ca_topic_score_gemma":0.002983915,"domain_scores_codex":[0.9987557,0.0001149144,0.0001094715,0.0004478131,0.0001642989,0.0004078975],"domain_scores_gemma":[0.9982057,0.000538274,0.0003579511,0.0001755363,0.0001148002,0.0006077438],"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":[0.00001088152,0.00001494571,0.002009186,0.00001072466,0.000004708144,0.9971445,0.00006828189,0.00001999949,0.0002617168,0.00006421976,0.00009312622,0.0002976915],"study_design_scores_gemma":[0.000006613039,0.0000208109,0.001872949,0.000006854623,0.000009188109,0.9975299,0.00005570317,0.0001134462,0.0001527388,0.00006709205,0.0001581071,0.000006554209],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9826463,0.004690901,0.002636871,0.002594172,0.0002818486,0.0002052298,0.000374345,0.0002023973,0.006367933],"genre_scores_gemma":[0.9956626,0.0009463977,0.001154934,0.0004392205,0.000554079,0.00003194089,0.0001093445,0.00002917062,0.001072225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007440547,"threshold_uncertainty_score":0.01369023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003513920784202453,"score_gpt":0.2068447053617554,"score_spread":0.203330784577553,"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."}}