Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.L268_T269insAA
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XPA

NM_000380.4:p.L268_T269insAA

Associated Papers

XPA: A key scaffold for human nucleotide excision repair.

Sugitani N et al.

Dna Repair, 2016

A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.

Lehmann J et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

Mutation Research. Reviews in Mutation Research, 0

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