{"id":"W2135121656","doi":"10.1007/s00439-004-1193-8","title":"An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22","year":2004,"lang":"en","type":"article","venue":"Human Genetics","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke; Cégep de Rivière-du-Loup; McGill University and Génome Québec Innovation Centre","funders":"","keywords":"Biology; Genetics; Locus (genetics); Haplotype; Disease gene identification; Candidate gene; Palmoplantar keratoderma; Hyperkeratosis; Chromosomal region; Connexin; Keratoderma; Gene; Allele; Mutation; Exome sequencing","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":[0.0001805568,0.0008229202,0.000586455,0.001458672,0.000685674,0.000358294,0.0006398573,0.0008047029,0.003740422],"category_scores_gemma":[0.001713819,0.0002516521,0.0003034926,0.0009538907,0.0008679636,0.0004208269,0.0007363177,0.000603674,0.0004148192],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004276993,"about_ca_system_score_gemma":0.0003159976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001149366,"about_ca_topic_score_gemma":0.001843519,"domain_scores_codex":[0.9996194,0.00004708677,0.0000328692,0.0001024036,0.0001274237,0.00007080794],"domain_scores_gemma":[0.9991682,0.0002564824,0.0002901137,0.00005961617,0.00007784602,0.0001477252],"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":[0.002276291,0.0002054119,0.04971268,0.000404304,0.0002368798,0.3926899,0.0006136989,0.000704546,0.5028096,0.00993917,0.002361458,0.03804598],"study_design_scores_gemma":[0.0001634834,0.000443921,0.160123,0.0000234337,0.000185493,0.8051515,0.0002841918,0.001443787,0.02404675,0.003108354,0.004972815,0.00005336067],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913729,0.0005392758,0.003141804,0.0003275562,0.00004495061,0.0000383228,0.000322114,0.0001916652,0.004021442],"genre_scores_gemma":[0.9972937,0.0001285209,0.001139065,0.00003137845,0.0000319289,0.00001174539,0.0001192494,0.00002499252,0.001219456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003740422,"threshold_uncertainty_score":0.01251298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01236464518436351,"score_gpt":0.2751988171071847,"score_spread":0.2628341719228212,"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."}}