Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.V43del1
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PMS2

NM_000535.7:p.V43del1

Associated Papers

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Guan Y et al.

Scientific Reports, 2025

41044115 (PubMed )
Supplement: 41598_2025_17881_MOESM2_ESM.xlsx › Sheet1

Pediatric glioblastoma in the setting of constitutional mismatch-repair deficiency treated with upfront lomustine and nivolumab.

Krugman J et al.

Pediatric Blood & Cancer, 2024

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
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