{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004297121,0.0004315061,0.0005073591,0.00008288443,0.00007729322,0.00003098638,0.0001938505,0.0002850853,0.00004841502],"category_scores_gemma":[0.00009417773,0.0003386011,0.00003778411,0.0002468103,0.0003089783,0.00000438102,0.0001757305,0.0002574706,0.00000132536],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003368106,"about_ca_system_score_gemma":0.0003709576,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001775774,"about_ca_topic_score_gemma":0.0006076656,"domain_scores_codex":[0.9973306,0.0003698606,0.0004819419,0.001091954,0.0002118318,0.000513825],"domain_scores_gemma":[0.9983236,0.00004570173,0.000144532,0.0009695419,0.0002200937,0.0002965145],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0009338195,0.0003601147,0.001886503,0.0000587402,0.0001788146,0.004527026,0.0007191973,0.0004951008,0.9867212,0.0005032359,0.00001715129,0.003599162],"study_design_scores_gemma":[0.05298346,0.03154292,0.1559118,0.001225448,0.001907425,0.08593276,0.005369026,0.01828291,0.5303596,0.002909078,0.1057731,0.00780254],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9456717,0.002584493,0.0503989,0.0005775995,0.00008817724,0.0004209979,0.00004427592,0.00001454859,0.0001993363],"genre_scores_gemma":[0.9871187,0.0003029555,0.009298748,0.00256875,0.0001243909,0.0000381786,0.0004620285,0.0000651103,0.00002115285],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4563616,"threshold_uncertainty_score":0.9999066,"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."}}