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: NF1: 1139T>C; Leu380Pro

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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Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.

Nature Medicine

Robertson, Neil A NA; Latorre-Crespo, Eric E; Terradas-Terradas, Maria M; Lemos-Portela, Jorge J; Purcell, Alison C AC; Livesey, Benjamin J BJ; Hillary, Robert F RF; Murphy, Lee L; Fawkes, Angie A; MacGillivray, Louise L; Copland, Mhairi M; Marioni, Riccardo E RE; Marsh, Joseph A JA; Harris, Sarah E SE; Cox, Simon R SR; Deary, Ian J IJ; Schumacher, Linus J LJ; Kirschner, Kristina K; Chandra, Tamir T

Publication Date: 2022-07

Variant appearance in text: NF1: 1139T>C

PubMed Link: 35788175

Variant Present in the following documents:

• 41591_2022_1883_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: NF1: L380P

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients.

International Journal Of Molecular Sciences

Geissler, Klaus K; Jäger, Eva E; Barna, Agnes A; Gurbisz, Michael M; Graf, Temeida T; Graf, Elmir E; Nösslinger, Thomas T; Pfeilstöcker, Michael M; Tüchler, Heinz H; Sliwa, Thamer T; Keil, Felix F; Geissler, Christoph C; Heibl, Sonja S; Thaler, Josef J; Machherndl-Spandl, Sigrid S; Zach, Otto O; Weltermann, Ansgar A; Bettelheim, Peter P; Stauder, Reinhard R; Zebisch, Armin A; Sill, Heinz H; Schwarzinger, Ilse I; Schneeweiss, Bruno B; Öhler, Leopold L; Ulsperger, Ernst E; Kusec, Rajko R; Germing, Ulrich U; Sperr, Wolfgang R WR; Knöbl, Paul P; Jäger, Ulrich U; Hörmann, Gregor G; Valent, Peter P

Publication Date: 2020-04-24

Variant appearance in text: NF1: 1139T>C; Leu380Pro

PubMed Link: 32344757

Variant Present in the following documents:

• ijms-21-03025-s001.pdf

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: NF1: L380P

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.

Genes

Cunha, Karin Soares KS; Oliveira, Nathalia Silva NS; Fausto, Anna Karoline AK; de Souza, Carolina Cruz CC; Gros, Audrey A; Bandres, Thomas T; Idrissi, Yamina Y; Merlio, Jean-Philippe JP; de Moura Neto, Rodrigo Soares RS; Silva, Rosane R; Geller, Mauro M; Cappellen, David D

Publication Date: 2016-12-17

Variant appearance in text: NF1: 1139T>C; L380P

PubMed Link: 27999334

Variant Present in the following documents:

• Main text
• genes-07-00133.pdf

View BVdb publication page

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