Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.E164*
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XPC

NM_004628.5:p.E164*

Associated Papers

Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.

Yuniati R et al.

Intractable & Rare Diseases Research, 2021

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

Inui H et al.

The Journal of Investigative Dermatology, 2008

Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.

Tanioka M et al.

The Journal of Investigative Dermatology, 2007

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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."