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: APC: 1879_1882del; Asn627fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: APC: N627Lfs*2

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: APC: N627Lfs*2

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Human Mutation

Watson, Christopher M CM; Crinnion, Laura A LA; Morgan, Joanne E JE; Harrison, Sally M SM; Diggle, Christine P CP; Adlard, Julian J; Lindsay, Helen A HA; Camm, Nick N; Charlton, Ruth R; Sheridan, Eamonn E; Bonthron, David T DT; Taylor, Graham R GR; Carr, Ian M IM

Publication Date: 2014-04

Variant appearance in text: N/A

PubMed Link: 24307375

Variant Present in the following documents:

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Comparative‑high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Human Genetics

Borun, Pawel P; Kubaszewski, Lukasz L; Banasiewicz, Tomasz T; Walkowiak, Jaroslaw J; Skrzypczak-Zielinska, Marzena M; Kaczmarek-Rys, Marta M; Plawski, Andrzej A

Publication Date: 2014-05

Variant appearance in text: APC: 1879_1882delAACA

PubMed Link: 24233542

Variant Present in the following documents:

• Main text
• 439_2013_Article_1393.pdf

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