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: 1957A>G; Arg653Gly

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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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: APC: 1957A>G; Arg653Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: R653G

PubMed Link: 32750050

Variant Present in the following documents:

• Main text
• pone.0233673.pdf

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Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.

Bmc Research Notes

Tao, Hong H; Shinmura, Kazuya K; Yamada, Hidetaka H; Maekawa, Masato M; Osawa, Satoshi S; Takayanagi, Yasuhiro Y; Okamoto, Kazuya K; Terai, Tomohiro T; Mori, Hiroki H; Nakamura, Toshio T; Sugimura, Haruhiko H

Publication Date: 2010-11-16

Variant appearance in text: APC: 1957A>G

PubMed Link: 21078199

Variant Present in the following documents:

• Main text
• 1756-0500-3-305.pdf

View BVdb publication page

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice

Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2005-09-15

Variant appearance in text: APC: 1957A>G; Arg653Gly

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

View BVdb publication page

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Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

The Journal Of Molecular Diagnostics : Jmd

Kaufmann, Astrid A; Vogt, Stefanie S; Uhlhaas, Siegfried S; Stienen, Dietlinde D; Kurth, Ingo I; Hameister, Horst H; Mangold, Elisabeth E; Kötting, Judith J; Kaminsky, Elke E; Propping, Peter P; Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2009-03

Variant appearance in text: APC: 1957A>G; Arg653Gly

PubMed Link: 19196998

Variant Present in the following documents:

• Main text

View BVdb publication page

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