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: MSH2: 882del; Phe294fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer

Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP

Publication Date: 2022-11-23

Variant appearance in text: MSH2: 882del; Phe294fs

PubMed Link: 36418753

Variant Present in the following documents:

• 10689_2022_319_MOESM2_ESM.xlsx, sheet 1

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A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.

Hereditary Cancer In Clinical Practice

Jung, Youn-Joon YJ; Kim, Hye Ryoun HR; Kim, Mi Kyung MK; Lee, Eun-Ju EJ

Publication Date: 2021-06-03

Variant appearance in text: MSH2: 882delT

PubMed Link: 34082788

Variant Present in the following documents:

• Main text
• 13053_2021_Article_185.pdf

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Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences

Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR

Publication Date: 2020-07-16

Variant appearance in text: MSH2: 879del

PubMed Link: 32708810

Variant Present in the following documents:

• ijms-21-05036-s001.pdf

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