Associated Papers
Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2024
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.
Ugur Iseri SA et al.
Journal of Human Genetics, 2019
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F et al.
Human Mutation, 2019
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Select a paper to view details