{"id":"W2011398247","doi":"10.1038/sj.ejhg.5200905","title":"A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1–14q24.3 in large consanguineous kindred from Pakistan","year":2003,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"National Institute on Deafness and Other Communication Disorders; National Institutes of Health; National Human Genome Research Institute; Quaid-i-Azam University; Johns Hopkins University; American Hearing Research Foundation","keywords":"Genetics; Locus (genetics); Consanguinity; Biology; Genetic linkage; Hearing loss; Haplotype; Lod score; Genetic heterogeneity; Phenotype; Gene mapping; Chromosome; Gene; Medicine; Audiology; Genotype","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":[0.001371629,0.0005425914,0.0007238759,0.000593307,0.0002938321,0.0002987082,0.001398486,0.0001136729,0.0002651382],"category_scores_gemma":[0.001048584,0.0005734902,0.0002055254,0.0006846297,0.0002050484,0.0001145354,0.0003447871,0.001007254,0.0003632605],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002175222,"about_ca_system_score_gemma":0.0003356937,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000179029,"about_ca_topic_score_gemma":0.00009547879,"domain_scores_codex":[0.9942422,0.001184806,0.001805451,0.0007954216,0.0009036951,0.001068414],"domain_scores_gemma":[0.9969842,0.0002446748,0.0009183133,0.0008746827,0.0003060627,0.0006720489],"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":[0.0001378367,0.0006412586,0.004133012,0.00002994872,0.0000378624,0.006414928,0.004063397,0.001854852,0.9789041,0.0002512512,0.001640685,0.001890928],"study_design_scores_gemma":[0.01855586,0.004782998,0.1466728,0.001357327,0.0002613261,0.005399013,0.002030882,0.000633923,0.7187719,0.0009793987,0.09726907,0.003285479],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987451,0.0004623645,0.00452485,0.0001192413,0.0009784017,0.0004156276,0.000113533,0.00004653212,0.005888512],"genre_scores_gemma":[0.9892634,0.00007806181,0.00855334,0.0009747492,0.0003909552,0.000002606736,0.000005175864,0.0002132867,0.0005184222],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2601321,"threshold_uncertainty_score":0.9996716,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03482128425440277,"score_gpt":0.2928118431733046,"score_spread":0.2579905589189018,"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."}}