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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR3A

Variant:p.Y637Splc

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POLR3A

NM_007055.4:p.Y637Splc

hg38:chr10:78009519 C>A

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )

Supplement: mmc4.xlsx › ALL

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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."