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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR3K

Variant:p.D108E

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POLR3K

NM_016310.5:p.D108E

hg38:chr16:47433 A>T

Associated Papers

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Perrier S et al.

Human Mutation, 2024

40225923 (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."