Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 2008G>A; Gly670Arg; rs63749857

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics

Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H

Publication Date: 2017-05

Variant appearance in text: MSH6: G670R

PubMed Link: 28531214

Variant Present in the following documents:

• Main text
• pgen.1006765.pdf

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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Journal Of Biomedical Science

Terui, Hiroko H; Akagi, Kiwamu K; Kawame, Hiroshi H; Yura, Kei K

Publication Date: 2013-04-28

Variant appearance in text: MSH6: G670R

PubMed Link: 23621914

Variant Present in the following documents:

• Main text

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Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

The American Journal Of Pathology

Hendriks, Yvonne Y; Franken, Patrick P; Dierssen, Jan Willem JW; De Leeuw, Wiljo W; Wijnen, Juul J; Dreef, Enno E; Tops, Carli C; Breuning, Martijn M; Bröcker-Vriends, Annette A; Vasen, Hans H; Fodde, Riccardo R; Morreau, Hans H

Publication Date: 2003-02

Variant appearance in text: MSH6: G670R

PubMed Link: 12547705

Variant Present in the following documents:

• Main text

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