Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S669Splc
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PMS2

NM_000535.7:p.S669Splc

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s008.xlsx › Sheet1

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

Senter L et al.

Gastroenterology, 2008

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."