Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.P96delFs
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XPA

NM_000380.4:p.P96delFs

Associated Papers

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

Sagun JP et al.

Plos Genetics, 2024

Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?

Wang H et al.

Mechanisms of Ageing and Development, 2017

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

Christen-Zaech S et al.

Archives of Dermatology, 2009

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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."