Varaico: Literature-Extracted Genetic Variants

Gene:YRDC
Variant:p.L265_Q266del1
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YRDC

NM_024640.4:p.L265_Q266del1

Associated Papers

The Biology of tRNA t6A Modification and Hypermodifications-Biogenesis and Disease Relevance.

Zhang W et al.

Journal of Molecular Biology, 2025

Biallelic variants in YRDC cause a developmental disorder with progeroid features.

Schmidt J et al.

Human Genetics, 2021

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Arrondel C et al.

Nature Communications, 2019

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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."