{"id":"W4379185019","doi":"10.7759/cureus.39884","title":"Clinical Features of a Newly Described Mutation of Myelin Protein Zero in a Family","year":2023,"lang":"en","type":"article","venue":"Cureus","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cytodiagnostics (Canada)","funders":"Invitae","keywords":"Medicine; Peripheral myelin protein 22; Gene duplication; Myelin; Disease; Mutation; Gene; Abnormality; Gene mutation; Pathology; Phenotype; Peripheral neuropathy; Genetics; Biology; Internal medicine; Endocrinology; Central nervous system","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003534799,0.00009719604,0.0002392275,0.00009274465,0.0000175125,0.000005772864,0.0002786608,0.0001210184,0.00002251247],"category_scores_gemma":[0.00479485,0.00008439809,0.00008542131,0.0007192364,0.0001877285,0.00009535461,0.00007860392,0.0002245591,0.00003958781],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008724233,"about_ca_system_score_gemma":0.00005502112,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001191096,"about_ca_topic_score_gemma":0.00005999376,"domain_scores_codex":[0.9983631,0.0003481057,0.0004856459,0.0003256972,0.0002615907,0.0002159083],"domain_scores_gemma":[0.9990832,0.0004724512,0.0001300664,0.0002286424,0.00003190996,0.00005376125],"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":[0.0002743261,0.0003944316,0.004473959,0.00006433961,0.00000482576,0.0001995101,0.000415641,0.0005093494,0.9757372,0.001486559,0.002568975,0.01387091],"study_design_scores_gemma":[0.002767242,0.002019111,0.7957954,0.0001145959,0.00001572784,0.000008435941,0.0003256178,0.002856743,0.1669684,0.02780899,0.0009854953,0.0003342768],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976467,0.00005721761,0.00008494628,0.0003877969,0.0001736825,0.0004579881,0.00002085453,0.00007499548,0.001095749],"genre_scores_gemma":[0.9991923,0.00004852894,0.0002384765,0.0003562038,0.00002148638,0.00003018216,0.000003668791,0.00001195441,0.00009720882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8087688,"threshold_uncertainty_score":0.5740229,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09990899893561403,"score_gpt":0.3494705315381779,"score_spread":0.2495615326025639,"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."}}