Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.D286delFs
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PMS2

NM_000535.7:p.D286delFs

Associated Papers

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

van der Klift HM et al.

Human Mutation, 2010

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

van Puijenbroek M et al.

Familial Cancer, 2008

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

Hendriks YM et al.

Gastroenterology, 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."