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: MLH1: 214G>T; D72Y

PubMed Link: 34253785

Variant Present in the following documents:

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

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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: MLH1: 214G>T; Asp72Tyr

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 1

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: MLH1: 214G>T; D72Y

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: MLH1: D72Y

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

Journal Of Medical Genetics

McVety, S S; Li, L L; Gordon, P H PH; Chong, G G; Foulkes, W D WD

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15923275

Variant Present in the following documents:

• Main text

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