{"id":"W4200198138","doi":"10.3233/jnd-210716","title":"Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report","year":2021,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Missense mutation; Genetics; Exome sequencing; Phenotype; Pleckstrin homology domain; Zinc finger; Mutation; RHOA; Medicine; Biology; Gene; Signal transduction","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.0002441044,0.0002852174,0.0005349959,0.0002275492,0.0001030037,0.0001087301,0.0002985793,0.00008411019,0.0001434317],"category_scores_gemma":[0.01191649,0.0002216426,0.0003210728,0.000726732,0.0001970528,0.0003660849,0.000115897,0.0005963354,0.000007645028],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005803611,"about_ca_system_score_gemma":0.0004138373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009452996,"about_ca_topic_score_gemma":0.00005552564,"domain_scores_codex":[0.9963859,0.0009845563,0.0008462645,0.0005432463,0.0007684741,0.0004715235],"domain_scores_gemma":[0.9975391,0.0007798155,0.0005967508,0.0004228397,0.0002059835,0.0004555344],"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":[0.0002554871,0.00113563,0.001800905,0.0000237998,0.00002798855,0.9897295,0.00007724606,0.0003789184,0.005924413,0.000006702041,0.0002615392,0.0003779206],"study_design_scores_gemma":[0.001776804,0.0008434205,0.05291612,0.0001340772,0.0001726419,0.9419202,0.00009570165,0.0003953486,0.0008922709,0.0002250869,0.0003609186,0.0002674586],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982171,0.0002599215,0.00004172463,0.000707833,0.0004077036,0.0001580947,0.0000518503,0.00003934786,0.0001164131],"genre_scores_gemma":[0.9978581,0.00008583078,0.00003644447,0.001797771,0.0001069601,0.000006103628,0.000005645935,0.00004129501,0.0000618327],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05111522,"threshold_uncertainty_score":0.9964066,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02280095069311045,"score_gpt":0.2581670848435923,"score_spread":0.2353661341504819,"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."}}