Publications:

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: MSH6: 2175C>G

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

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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: 2175C>G; Ile725Met; rs63750304

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH6: I725M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

American Journal Of Human Genetics

Berends, Maran J W MJ; Wu, Ying Y; Sijmons, Rolf H RH; Mensink, Rob G J RG; van der Sluis, Tineke T; Hordijk-Hos, Jannet M JM; de Vries, Elisabeth G E EG; Hollema, Harry H; Karrenbeld, Arend A; Buys, Charles H C M CH; van der Zee, Ate G J AG; Hofstra, Robert M W RM; Kleibeuker, Jan H JH

Publication Date: 2002-01

Variant appearance in text: MSH6: Ile725Met

PubMed Link: 11709755

Variant Present in the following documents:

• Main text

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