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Article

Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.

The Journal of molecular diagnostics : JMD - 1 Sept 2024

Mistry Nipun A, Roellinger Samantha E, Manninen Matthew C, Gandham Mallika, Koganti Tejaswi, Balan Jagadheshwar, Basu Shubham, Blake Emily J, Tandale Pratyush P, Holdren Megan A, Hoenig Megan F, Urban Rhianna M, Veith Rebecca L, Kendzior Matthew C, Wang Chen, Gupta Sounak, Shen Wei

Abstract excerpt

PMS2 is one of the DNA-mismatch repair genes included in routine genetic testing for Lynch syndrome and colorectal, ovarian, and endometrial cancers. PMS2 is also included in the American College of Medical Genetics and Genomics' List of Secondary Findings Genes in the context of clinical exome and genome sequencing. However, sequencing of PMS2 by short-read-based next-generation sequencing technologies is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38925456
DOI: 10.1016/j.jmoldx.2024.06.001

Genes

PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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