Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.K522*
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XPC

NM_004628.5:p.K522*

Associated Papers

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Liu MH et al.

Biorxiv : the Preprint Server for Biology, 2023

36824744 (PubMed )
Supplement: media-3.xlsx › Suppl_Table_1_-_Samples

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.4

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

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

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

Rivera-Begeman A et al.

Dna Repair, 2007

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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."