Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E667*
Back to variants list

PMS2

NM_000535.7:p.E667*

Associated Papers

Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

Michaeli O et al.

Clinical Genetics, 2022

Spontaneous mutations in the single TTN gene represent high tumor mutation burden.

Oh JH et al.

Npj Genomic Medicine, 2020

32821429 (PubMed )
Supplement: 41525_2019_107_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."