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: 1225C>T; Gln409Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Plos One

Marbun, Vania Myralda Giamour VMG; Erlina, Linda L; Lalisang, Toar Jean Maurice TJM

Publication Date: 2022

Variant appearance in text: MLH1: Q409*

PubMed Link: 35709138

Variant Present in the following documents:

• Main text

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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: MLH1: 1225C>T; Gln409Ter; rs63751153

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

Familial Cancer

Jasperson, Kory W KW; Vu, Thuy M TM; Schwab, Angela L AL; Neklason, Deborah W DW; Rodriguez-Bigas, Miguel A MA; Burt, Randall W RW; Weitzel, Jeffrey N JN

Publication Date: 2010-06

Variant appearance in text: MLH1: Q409X

PubMed Link: 19731080

Variant Present in the following documents:

• Main text

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Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer

Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ

Publication Date: 2007-05-21

Variant appearance in text: MLH1: 1225C>T; Gln409X

PubMed Link: 17453009

Variant Present in the following documents:

• Main text
• 6603754a.pdf

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