Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.L799L
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ERCC5

NM_000123.4:p.L799L

Associated Papers

An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature.

De Cleene N et al.

Clinical Parkinsonism & Related Disorders, 2025

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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."