Varaico: Literature-Extracted Genetic Variants

Gene:POLR1A
Variant:p.H108Y
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POLR1A

NM_015425.6:p.H108Y

Associated Papers

The human RNA polymerase I structure reveals an HMG-like docking domain specific to metazoans.

Daiß JL et al.

Life Science Alliance, 2022

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.

Gauquelin L et al.

Neurology. Genetics, 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."