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: 1996T>C; Ser666Pro; rs587779222

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: MSH6: 1996T>C; Ser666Pro; rs587779222

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 3

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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: S666P

PubMed Link: 28531214

Variant Present in the following documents:

• Main text
• pgen.1006765.pdf

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Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families.

World Journal Of Gastroenterology

Yan, Shi-Yan SY; Zhou, Xiao-Yan XY; Du, Xiang X; Zhang, Tai-Ming TM; Lu, Yong-Ming YM; Cai, San-Jun SJ; Xu, Xiao-Li XL; Yu, Bao-Hua BH; Zhou, Heng-Hua HH; Shi, Da-Ren DR

Publication Date: 2007-10-07

Variant appearance in text: MSH6: 1996T>C

PubMed Link: 17854147

Variant Present in the following documents:

• Main text

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