Varaico: Literature-Extracted Genetic Variants

Gene:EEF1D
Variant:p.A23delFs
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EEF1D

NM_001130053.5:p.A23delFs

Associated Papers

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

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."