Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.R169G
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PMS2

NM_000535.7:p.R169G

Associated Papers

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

Mork ME et al.

Familial Cancer, 2016

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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."