{"id":"W3183761944","doi":"10.3390/ijms22157875","title":"Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy","year":2021,"lang":"en","type":"article","venue":"International Journal of Molecular Sciences","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Agence Nationale de la Recherche; Foundation Fighting Blindness","keywords":"Frameshift mutation; Biology; Genetics; Dystrophy; Gene; Mitochondrion; Candidate gene; Mitochondrial DNA; Disease gene identification; Mutation; Mitochondrial disease; Molecular biology; Exome sequencing","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":[0.00008418456,0.0005840248,0.0002685333,0.0007404936,0.0004384021,0.0001792675,0.0002134884,0.0005403406,0.002041086],"category_scores_gemma":[0.0002593768,0.000108056,0.0001832458,0.0002888101,0.0003407916,0.0001396845,0.0002325493,0.000218445,0.0001919317],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00024618,"about_ca_system_score_gemma":0.0001714406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000779879,"about_ca_topic_score_gemma":0.001270409,"domain_scores_codex":[0.9998513,0.00001943056,0.00002235668,0.0000476932,0.000038281,0.00002082576],"domain_scores_gemma":[0.9998446,0.00004328378,0.000055121,0.00001006084,0.00001230939,0.00003467861],"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":[0.0005017647,0.0001084414,0.05521816,0.0003094448,0.0001061825,0.2328356,0.0003159648,0.0003375933,0.6990203,0.0009933833,0.0006009981,0.009652244],"study_design_scores_gemma":[0.00009663358,0.0005876349,0.4017638,0.0001026544,0.0002542973,0.4227507,0.0004574653,0.003244399,0.1618986,0.0006810135,0.00812217,0.00004063429],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956185,0.001361604,0.001694635,0.0001272654,0.00003346156,0.00002044984,0.0002265795,0.00005826046,0.0008591611],"genre_scores_gemma":[0.9986036,0.0002062511,0.0005753662,0.00003192082,0.00001176597,0.00000414748,0.0001093735,0.00000602247,0.0004514714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002041086,"threshold_uncertainty_score":0.00682807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01027376950048535,"score_gpt":0.2797613029095245,"score_spread":0.2694875334090391,"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."}}