Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E308D
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PMS2

NM_000535.7:p.E308D

Associated Papers

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.

Yildiz S et al.

Frontiers in Oncology, 2023

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2

Screening of germline mutations in young Rwandan patients with breast cancers.

Uyisenga JP et al.

Molecular Genetics & Genomic Medicine, 2020

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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."