{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001645596,0.001459699,0.0007944687,0.001221503,0.001378686,0.0003945487,0.000612768,0.001349337,0.003127311],"category_scores_gemma":[0.001244623,0.0004045466,0.0004366846,0.0005529254,0.000966043,0.000416428,0.000772944,0.000745437,0.000423986],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005374078,"about_ca_system_score_gemma":0.000539501,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003585176,"about_ca_topic_score_gemma":0.003306033,"domain_scores_codex":[0.9997236,0.00002721118,0.00002069138,0.0001120056,0.00005898042,0.00005742928],"domain_scores_gemma":[0.9994548,0.0001370288,0.00007132516,0.00002369627,0.00005657716,0.0002565027],"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":[0.0001321433,0.0001802454,0.02905528,0.00005815673,0.00004500458,0.9503416,0.001542252,0.0001771259,0.01020007,0.0006357159,0.001155205,0.006477244],"study_design_scores_gemma":[0.00001616085,0.0001679672,0.03024986,0.00002202066,0.00003439416,0.9661328,0.000188748,0.0002282851,0.001157376,0.0002013831,0.001577205,0.00002375356],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922781,0.0007777286,0.0009738844,0.0005743015,0.00007683372,0.0000504498,0.0002319894,0.00007873225,0.004957987],"genre_scores_gemma":[0.9961411,0.0003875132,0.0006600873,0.0002324348,0.0000771951,0.00002029603,0.0001210764,0.00001501905,0.00234526],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003585176,"threshold_uncertainty_score":0.01046187,"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."}}