Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors.
Corradi C et al.
Carcinogenesis, 2023
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
Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
Soares IFZ et al.
Molecular Genetics & Genomic Medicine, 2020
The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
Castro LP et al.
Mutation Research. Genetic Toxicology and Environmental Mutagenesis, 2020
Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.
Lerner LK et al.
Scientific Reports, 2020
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
Nishigori C et al.
Photochemistry and Photobiology, 2019
Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type.
Hong WJ et al.
Photodermatology, Photoimmunology & Photomedicine, 2018
A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.
Munford V et al.
The British Journal of Dermatology, 2017
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 2016
Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
Feltes BC et al.
Mutation Research. Reviews in Mutation Research, 0
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