Varaico: Literature-Extracted Genetic Variants

Gene:POLR3D
Variant:p.V219fs
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POLR3D

NM_001722.3:p.V219fs

Associated Papers

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Macintosh J et al.

Frontiers in Neurology, 2023

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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."