Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.G58Splc
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XPA

NM_000380.4:p.G58Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

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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."