Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability

Gong, P; Liu, J; Jiao, XR; Niu, Y; Wang, J; Wang, XD; Yang, ZX

Wang, XD (通讯作者)，Cipher Gene Ltd, Beijing, Peoples R China.;Yang, ZX (通讯作者)，1 Xianmen St, Beijing 100034, Peoples R China.

HUMAN MUTATION, 2022; 43 (3): 299

Abstract

Biallelic variants in EEF1B2 have recently been shown to cause a novel form of non-syndromic intellectual disability (ID) in two unrelated families. M......

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