Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.V623fs
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ERCC2

NM_000400.4:p.V623fs

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

Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Qin N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

32496904 (PubMed )
Supplement: DS_jco.19.02760.pdf

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 121.83
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."