Publications:

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Nature Genetics

Rouhani, Foad J FJ; Zou, Xueqing X; Danecek, Petr P; Badja, Cherif C; Amarante, Tauanne Dias TD; Koh, Gene G; Wu, Qianxin Q; Memari, Yasin Y; Durbin, Richard R; Martincorena, Inigo I; Bassett, Andrew R AR; Gaffney, Daniel D; Nik-Zainal, Serena S

Publication Date: 2022-09

Variant appearance in text: FLNA: E2282K

PubMed Link: 35953586

Variant Present in the following documents:

• 41588_2022_1147_MOESM4_ESM.xlsx, sheet 5

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: FLNA: E2282K

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

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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: FLNA: E2282K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FLNA: E2282K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page