{"id":"W2140202756","doi":"10.1046/j.0009-9163.2002.00004.x","title":"<i>USH1C</i>: a rare cause of USH1 in a non‐Acadian population and a founder effect of the Acadian allele","year":2003,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; National Institute on Deafness and Other Communication Disorders; University of Miami; Research to Prevent Blindness; Foundation Fighting Blindness","keywords":"Founder effect; Usher syndrome; Genetics; Haplotype; Proband; Retinitis pigmentosa; Biology; Allele; Mutation; Population; Medicine; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001629341,0.0007012943,0.0003573515,0.001069387,0.001345821,0.0003608461,0.0004173844,0.0004406695,0.002960159],"category_scores_gemma":[0.001165446,0.000255983,0.0002517968,0.0008663752,0.0007033082,0.0001251861,0.0003958621,0.0004041485,0.0002992529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005330261,"about_ca_system_score_gemma":0.0006401681,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02548139,"about_ca_topic_score_gemma":0.03072801,"domain_scores_codex":[0.9996415,0.00003738002,0.00003062692,0.0001138634,0.00009240993,0.00008422385],"domain_scores_gemma":[0.9996265,0.00006873679,0.0001171686,0.00003172093,0.00005261455,0.0001031828],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009269033,0.00023061,0.8358693,0.00008964419,0.0001605088,0.08850684,0.0025411,0.0001557843,0.04258928,0.0004043136,0.001005094,0.02752067],"study_design_scores_gemma":[0.00006412019,0.0005053048,0.8454573,0.00003480148,0.0001070119,0.1464013,0.0008457575,0.0004263095,0.003852313,0.0001215823,0.002147224,0.00003691409],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992804,0.00009400878,0.0001021962,0.00002116908,0.000003804583,0.00001192249,0.00004835905,0.000007638601,0.0004305386],"genre_scores_gemma":[0.9993576,0.00007620153,0.0001674598,0.00004443745,0.00001522572,0.000004217237,0.00009171144,0.000005700385,0.0002374414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9745186,"threshold_uncertainty_score":0.05066615,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07117244828224627,"score_gpt":0.3726195757648693,"score_spread":0.301447127482623,"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."}}