Varaico: Literature-Extracted Genetic Variants

Gene:POLR3E
Variant:p.C553*
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POLR3E

NM_018119.4:p.C553*

Associated Papers

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.

Takizawa Y et al.

The Journal of Investigative Dermatology, 2000

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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."