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>C; Arg653=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Journal Of Personalized Medicine

Scheiter, Alexander A; Hierl, Frederik F; Winkel, Ingrid I; Keil, Felix F; Klier-Richter, Margit M; Coulouarn, Cédric C; Lüke, Florian F; Kandulski, Arne A; Evert, Matthias M; Dietmaier, Wolfgang W; Calvisi, Diego F DF; Utpatel, Kirsten K

Publication Date: 2022-08-01

Variant appearance in text: APC: R653=

PubMed Link: 36013219

Variant Present in the following documents:

• Main text
• jpm-12-01270.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>C

PubMed Link: 21078199

Variant Present in the following documents:

• Main text
• 1756-0500-3-305.pdf

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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>C

PubMed Link: 20223039

Variant Present in the following documents:

• Main text

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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>C

PubMed Link: 19196998

Variant Present in the following documents:

• Main text

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Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics

Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M

Publication Date: 2007-04-05

Variant appearance in text: APC: Arg653Arg

PubMed Link: 17411426

Variant Present in the following documents:

• Main text
• 1471-2350-8-16.pdf

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