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.
对大量听力障碍患者进行外显子组变异优先排序表明,IKZF2 与非综合征性听力损失相关,并指导未来对未解决病例的研究
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-024-02706-w
Velde Hedwig M, Vaseghi-Shanjani Maryam, Smits Jeroen J, Ramakrishnan Gayatri, Oostrik Jaap, Wesdorp Mieke, Astuti Galuh, Yntema Helger G, Hoefsloot Lies, Lanting Cris P, Huynen Martijn A, Lehman Anna, Turvey Stuart E, Pennings Ronald J E, Kremer Hannie