Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.V321I
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PMS2

NM_000535.7:p.V321I

Associated Papers

Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.

Loong L et al.

Journal of Medical Genetics, 2024

39433398 (PubMed )
Supplement: jmg-61-12-s001.pdf

WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.

Xu L et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778325 (PubMed )
Supplement: media-4.xlsx › Sheet1

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q et al.

Journal of Medical Genetics, 2020

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

Dudley B et al.

The American Journal of Surgical Pathology, 2015

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Vaughn CP et al.

Human Mutation, 2010

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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."