Mutational signatures and increased retrotransposon insertions in Xeroderma Pigmentosum variant skin tumors
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DOI: 10.1101/2022.07.28.22277756
Abstract: Xeroderma Pigmentosum variant (XP-V) is an autosomal recessive disease with an increased risk to develop cutaneous neoplasms in sunlight exposed regions. These cells are deficient in the translesion synthesis DNA polymerase eta. Eleven skin tumors… read more here.
Keywords: xeroderma pigmentosum; skin tumors; pigmentosum variant; mutational signatures ... See more keywords