Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.M797R
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PMS2

NM_000535.7:p.M797R

Associated Papers

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

Long-range PCR facilitates the identification of PMS2-specific mutations.

Clendenning M et al.

Human Mutation, 2006

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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."