Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MLH1: 2T>A; Met1Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: rs111052004

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.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: N/A

PubMed Link: 34253785

Variant Present in the following documents:

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A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.

Biomed Research International

Zhang, Yanni Y; Chen, Huishuang H; Peng, Zhiyu Z; Banerjee, Santasree S; Li, Wei W; Zhao, Zhaolong Z; Sun, Jianbin J; Lv, Jian J; Huang, Hui H; Bai, Ru R; Lin, Keke K; Li, Zhongxin Z

Publication Date: 2018

Variant appearance in text: MLH1: 2T>A

PubMed Link: 30539002

Variant Present in the following documents:

• Main text
• BMRI2018-1460835.pdf

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Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine

Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2016-03

Variant appearance in text: MLH1: 2T>A

PubMed Link: 27064304

Variant Present in the following documents:

• Main text
• MGG3-4-223.pdf

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