Publications:

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: rs746448428

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 3

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Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Dna Repair

Vasovcak, P P; Krepelova, A A; Menigatti, M M; Puchmajerova, A A; Skapa, P P; Augustinakova, A A; Amann, G G; Wernstedt, A A; Jiricny, J J; Marra, G G; Wimmer, K K

Publication Date: 2012-07-01

Variant appearance in text: MSH6: 2040C>T

PubMed Link: 22608206

Variant Present in the following documents:

• Main text

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