Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.M113delFs
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XPA

NM_000380.4:p.M113delFs

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

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

Dobbins SE et al.

Familial Cancer, 2016

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