Varaico: Literature-Extracted Genetic Variants

Gene:MDC1
Variant:p.G532E
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MDC1

NM_014641.3:p.G532E

Associated Papers

Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.

Lemberger U et al.

European Urology Open Science, 2025

39717660 (PubMed )
Supplement: mmc4.xlsx › Raw_data

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_DNArep

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Kovac M et al.

Nature Communications, 2015

26632267 (PubMed )
Supplement: ncomms9940-s1.pdf
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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."