Publications:

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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: APC: 1958G>T; Arg653Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Nature Communications

Lee, Bernard C H BCH; Robinson, Philip S PS; Coorens, Tim H H THH; Yan, Helen H N HHN; Olafsson, Sigurgeir S; Lee-Six, Henry H; Sanders, Mathijs A MA; Siu, Hoi Cheong HC; Hewinson, James J; Yue, Sarah S K SSK; Tsui, Wai Yin WY; Chan, Annie S Y ASY; Chan, Anthony K W AKW; Ho, Siu Lun SL; Campbell, Peter J PJ; Martincorena, Inigo I; Buczacki, Simon J A SJA; Yuen, Siu Tsan ST; Leung, Suet Yi SY; Stratton, Michael R MR

Publication Date: 2022-05-17

Variant appearance in text: APC: R653M

PubMed Link: 35581206

Variant Present in the following documents:

• 41467_2022_29920_MOESM3_ESM.xlsx, sheet 7

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: APC: 1958G>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Journal Of Clinical Laboratory Analysis

Ghadamyari, Faranak F; Heidari, Mohammad Mehdi MM; Zeinali, Sirous S; Khatami, Mehri M; Merat, Shahin S; Bagherian, Hamideh H; Rejali, Leili L; Ghasemi, Farzaneh F

Publication Date: 2021-05

Variant appearance in text: APC: Arg653Met; rs1060503318

PubMed Link: 33769591

Variant Present in the following documents:

• Main text
• JCLA-35-e23768.pdf

View BVdb publication page

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Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

Plos One

Karabachev, Alexander D AD; Martini, Dylan J DJ; Hermel, David J DJ; Solcz, Dana D; Richardson, Marcy E ME; Pesaran, Tina T; Sarkar, Indra Neil IN; Greenblatt, Marc S MS

Publication Date: 2020

Variant appearance in text: APC: R653M

PubMed Link: 32750050

Variant Present in the following documents:

• Main text
• pone.0233673.pdf

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Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Inra, Jennifer A JA; Steyerberg, Ewout W EW; Grover, Shilpa S; McFarland, Ashley A; Syngal, Sapna S; Kastrinos, Fay F

Publication Date: 2015-10

Variant appearance in text: APC: R653M

PubMed Link: 25590978

Variant Present in the following documents:

View BVdb publication page

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Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Bmc Medical Genetics

Nilbert, Mef M; Kristoffersson, Ulf U; Ericsson, Mats M; Johannsson, Oskar O; Rambech, Eva E; Mangell, Peter P

Publication Date: 2008-11-26

Variant appearance in text: APC: 1958G>T

PubMed Link: 19036155

Variant Present in the following documents:

• Main text
• 1471-2350-9-101.pdf

View BVdb publication page

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