{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0001253279,0.0002260827,0.000239994,0.00008969758,0.0002783165,0.00003418616,0.0003872953,0.0001141843,0.0004265734],"category_scores_gemma":[0.001211189,0.0002080792,0.0001151554,0.0004469253,0.0002116843,0.000333976,0.00009339261,0.0002509256,0.000822952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003459035,"about_ca_system_score_gemma":0.0000498471,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006407653,"about_ca_topic_score_gemma":0.00002529878,"domain_scores_codex":[0.9979298,0.0001847826,0.0003587408,0.0005954147,0.0004428568,0.0004884751],"domain_scores_gemma":[0.9988343,0.00046113,0.0001158176,0.0003912767,0.00003370294,0.0001638228],"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":[0.00004472623,0.0005911386,0.0007491495,0.00003975897,0.000006249026,0.0009136848,0.0009304215,0.001356845,0.9858687,0.001693779,0.003673099,0.004132449],"study_design_scores_gemma":[0.01032659,0.002777623,0.5495057,0.0001014236,0.00009712088,0.001954617,0.000458094,0.06178522,0.3026545,0.01234159,0.05503868,0.002958871],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922333,0.00003721361,0.0009575528,0.001329812,0.0003805306,0.0003706951,0.00004707605,0.0003205287,0.004323246],"genre_scores_gemma":[0.9957914,0.00001900349,0.0002693806,0.00328558,0.00009643637,0.00004730335,0.00001533691,0.00003574673,0.0004398498],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6832142,"threshold_uncertainty_score":0.999955,"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."}}