{"id":"W2032072524","doi":"10.1002/mus.21145","title":"Novel 95G>A (R32K) somatic mosaic connexin 32 mutation","year":2008,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; McMaster University Medical Centre","funders":"","keywords":"Connexin 32; Mutation; Phenotype; Genetics; Transition (genetics); Biology; Somatic cell; Peripheral neuropathy; Gene; Lineage (genetic); Connexin; Endocrinology","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":[0.0001645655,0.001200909,0.0004949308,0.0007090458,0.0007706125,0.0004480763,0.0006291032,0.001593314,0.002583128],"category_scores_gemma":[0.0007926826,0.0002732404,0.0004128786,0.0005647452,0.0008813012,0.0003616137,0.0005398258,0.0007477408,0.0006375663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005786868,"about_ca_system_score_gemma":0.0004237664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00258725,"about_ca_topic_score_gemma":0.002671828,"domain_scores_codex":[0.9997696,0.00001882825,0.00001804029,0.00008886352,0.00005337486,0.00005127305],"domain_scores_gemma":[0.9996454,0.00009056639,0.00008280768,0.00001426027,0.00001966785,0.0001473018],"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":[0.00008027687,0.00005575331,0.004405863,0.00003515365,0.00002243269,0.970842,0.0003179851,0.0002026968,0.01959403,0.0007294429,0.0008342694,0.00288003],"study_design_scores_gemma":[0.00004277097,0.0001936629,0.0193286,0.00002124856,0.00003007535,0.9743811,0.0001236455,0.0005194981,0.00331904,0.0003371077,0.001680933,0.00002237307],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911858,0.0006772387,0.001179569,0.0008873004,0.0001340904,0.00005521247,0.0005614699,0.0001176685,0.00520154],"genre_scores_gemma":[0.9976566,0.0001397408,0.000523757,0.0001741013,0.00006543165,0.00001006788,0.0001226081,0.00001499683,0.001292683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00258725,"threshold_uncertainty_score":0.008641362,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06605897500435143,"score_gpt":0.2544651179587327,"score_spread":0.1884061429543812,"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."}}