Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R272Splc
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ERCC2

NM_000400.4:p.R272Splc

Associated Papers

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Garcia-Moreno H et al.

Brain : a Journal of Neurology, 2023

38040034 (PubMed )
Supplement: awad266_supplementary_data.pdf

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.

Yurchenko AA et al.

Nature Communications, 2023

37142601 (PubMed )
Supplement: 41467_2023_38311_MOESM1_ESM.pdf

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_TableS3.xlsx › S3B
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