{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009015841,0.0001642685,0.0002315914,0.0001398143,0.00006967856,0.00002863445,0.0001749418,0.00006844187,0.00004712534],"category_scores_gemma":[0.001455765,0.0001423639,0.00002204069,0.0005758425,0.0002368245,0.0001527284,0.0002220158,0.0001031918,0.00004078687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006197297,"about_ca_system_score_gemma":0.00003845399,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001022298,"about_ca_topic_score_gemma":0.0001616574,"domain_scores_codex":[0.9986534,0.00008554968,0.0002150154,0.0004953684,0.0002103151,0.0003403747],"domain_scores_gemma":[0.9990907,0.0004670306,0.0000609071,0.0002262486,0.00002049704,0.0001345834],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002426464,0.0002996751,0.2206036,0.0002628565,0.00001573728,0.0002880346,0.0003678037,0.0003809714,0.7702241,0.0006611738,0.001086201,0.005567272],"study_design_scores_gemma":[0.0007387167,0.0002371705,0.9877819,0.00002845531,0.00002373048,0.00001863732,0.00004156563,0.002968391,0.006346511,0.0005501999,0.00103879,0.000225877],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980903,0.0005462719,0.0000256634,0.000474827,0.0002374469,0.0002542939,0.000198532,0.00007750968,0.00009514456],"genre_scores_gemma":[0.9978457,0.00138594,0.00002068338,0.0003589268,0.00004832362,0.00001505762,0.000008817653,0.00002102812,0.0002955108],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7671784,"threshold_uncertainty_score":0.580543,"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."}}