{"id":"W4318477704","doi":"10.3390/genes14020328","title":"Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"King Abdulaziz University","keywords":"Sanger sequencing; Ataxia; Exome sequencing; Genetics; Medicine; Pes cavus; Founder effect; Spastic; Spasticity; Disease gene identification; Phenotype; Mutation; Biology; Internal medicine; Neuroscience; Genotype; Gene; Haplotype; Psychiatry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002291955,0.0009468217,0.00045281,0.0009063637,0.0006140252,0.0003043164,0.0003598696,0.0004440255,0.002467677],"category_scores_gemma":[0.0007681326,0.0003173893,0.000314677,0.0005526588,0.0004588851,0.0001526406,0.000470744,0.000290173,0.0003646912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002830126,"about_ca_system_score_gemma":0.0002079549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002214045,"about_ca_topic_score_gemma":0.00235965,"domain_scores_codex":[0.9996544,0.00004598582,0.00004596408,0.0001249417,0.00006605798,0.00006267392],"domain_scores_gemma":[0.9997057,0.00008556253,0.00007563241,0.00002400135,0.00002683974,0.00008220577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002711514,0.0004113043,0.7004485,0.000208721,0.0002515111,0.1530189,0.002685146,0.0005457936,0.1147428,0.0006302602,0.001570663,0.02277491],"study_design_scores_gemma":[0.0002245893,0.0005522793,0.7873175,0.00004345766,0.0001677684,0.194937,0.0005924162,0.0005975502,0.01088758,0.0002052155,0.004438702,0.00003593892],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987704,0.000208754,0.0002619701,0.0000160177,0.000006118331,0.0000190609,0.0003073581,0.00001023096,0.0004000975],"genre_scores_gemma":[0.9984676,0.000159095,0.0003898077,0.00002064376,0.00001610266,0.00001878052,0.0004653547,0.000007376655,0.0004551455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002467677,"threshold_uncertainty_score":0.008255124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05642104002658125,"score_gpt":0.2709833799566879,"score_spread":0.2145623399301066,"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."}}