Varaico: Literature-Extracted Genetic Variants

Gene:DALRD3
Variant:p.Y417*
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DALRD3

NM_001009996.3:p.Y417*

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification.

Zhang K et al.

Hgg Advances, 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

Division of labor in epitranscriptomics: What have we learnt from the structures of eukaryotic and viral multimeric RNA methyltransferases?

Graille M

Wiley Interdisciplinary Reviews. Rna, 2022

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.

Lentini JM et al.

Nature Communications, 2020

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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."