Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.T511K
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PMS2

NM_000535.7:p.T511K

Associated Papers

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Del-Toro N et al.

Nature Communications, 2019

30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

Nakagawa H et al.

Cancer Research, 2004

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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."