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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:YRDC

Variant:p.V241I

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YRDC

NM_024640.4:p.V241I

hg38:chr1:37804348 C>T

Associated Papers

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

Arrondel C et al.

Nature Communications, 2019

31481669 (PubMed )

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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."