Varaico: Literature-Extracted Genetic Variants

Gene:EEF1D
Variant:p.H635_V636Splc
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EEF1D

NM_001130053.5:p.H635_V636Splc

Associated Papers

Genetic Testing for Global Developmental Delay in Early Childhood.

Zhang J et al.

Jama Network Open, 2024

38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2

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

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

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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."