Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.C843Y
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PMS2

NM_000535.7:p.C843Y

Associated Papers

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

Wang Q et al.

Journal of Medical Genetics, 2020

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Drost M et al.

Human Mutation, 2013

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Senter L et al.

Gastroenterology, 2008

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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."