{"id":"W3118774180","doi":"10.1002/mgg3.1574","title":"Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited <i>GJB2</i> frameshift variant and novel missense variant","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Missense mutation; Frameshift mutation; Biology; Genetics; Epidermolysis bullosa simplex; Genodermatosis; Hearing loss; Palmoplantar keratoderma; Phenotype; Mutant protein; Mutant; Hyperkeratosis; Medicine; Gene","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":[0.0002571006,0.00165194,0.0007165287,0.001211955,0.00140825,0.0008634593,0.0006580903,0.001930576,0.0021187],"category_scores_gemma":[0.001089054,0.0005910089,0.0006337853,0.0007101863,0.0008717643,0.0006591285,0.0009045195,0.001076662,0.0004743309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005435951,"about_ca_system_score_gemma":0.0004923818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001804906,"about_ca_topic_score_gemma":0.001895881,"domain_scores_codex":[0.9996,0.00002386252,0.00004422923,0.0001746068,0.00005583085,0.0001014476],"domain_scores_gemma":[0.999471,0.0001353587,0.0001141512,0.0000339626,0.00003454362,0.0002109939],"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":[0.0001061316,0.00006861527,0.01386639,0.00003161859,0.00002127723,0.9724596,0.000471004,0.0001182805,0.01063168,0.0001601041,0.0001968694,0.001868349],"study_design_scores_gemma":[0.00002574148,0.0001649578,0.02116434,0.00001030994,0.00003016164,0.9762102,0.0001453796,0.000250914,0.00147451,0.0001243457,0.0003789726,0.00002015845],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958264,0.0002971103,0.000660054,0.0003458663,0.00003583809,0.00004919872,0.0001828955,0.0000754955,0.002527066],"genre_scores_gemma":[0.998773,0.00009664646,0.0004153996,0.0001240249,0.00003965674,0.000008979376,0.00005561044,0.0000129928,0.0004736282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0021187,"threshold_uncertainty_score":0.007087767,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006569195291651909,"score_gpt":0.2128153051733832,"score_spread":0.2062461098817313,"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."}}