Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
第一作者:
Hedwig M,Velde
第一单位:
Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.;Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
作者:
医学主题词
人类(Humans);女(雌)性(Female);男(雄)性(Male);听觉丧失(Hearing Loss);系谱(Pedigree);Ikaros转录因子(Ikaros Transcription Factor);队列研究(Cohort Studies);突变, 误义(Mutation, Missense);疾病遗传易感性(Genetic Predisposition to Disease);基因频率(Gene Frequency);成年人(Adult);儿童(Child);聋(Deafness)
DOI
10.1007/s00439-024-02706-w
PMID
39406892
发布时间
2024-11-01
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Human genetics
1379-1399页
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