Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D55Splc
Back to variants list

PMS2

NM_000535.7:p.D55Splc

Associated Papers

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.

Bouras A et al.

Familial Cancer, 2023

Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.

Isidro RA et al.

Frontiers in Oncology, 2023

Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.

Okkels H et al.

Genetic Testing and Molecular Biomarkers, 2019

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."