Associated Papers
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder.
Ketenci-İşlek S et al.
Neurogenetics, 2026
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability.
Gong P et al.
Human Mutation, 2022
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Larcher L et al.
Clinical Genetics, 2020
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