Publications:

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Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.

Diagnostics (Basel, Switzerland)

Groen, Karlijn K; Huitema, Marloes P MP; van der Vis, Joanne J JJ; Post, Marco C MC; Grutters, Jan C JC; Baughman, Robert P RP; van Moorsel, Coline H M CHM

Publication Date: 2022-10-21

Variant appearance in text: NOTCH3: 6221C>T; P2074L; rs114447350

PubMed Link: 36292254

Variant Present in the following documents:

• diagnostics-12-02564.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: NOTCH3: P2074L

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: NOTCH3: 6221C>T; Pro2074Leu; rs114447350

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: NOTCH3: 6221C>T; Pro2074Leu

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NOTCH3: 6221C>T; P2074L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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NOTCH3 variants and risk of ischemic stroke.

Plos One

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Verbeeck, Christophe C; Serie, Daniel J DJ; Rayaprolu, Sruti S; Rich, Stephen S SS; Nalls, Michael A MA; Singleton, Andrew A; Guerreiro, Rita R; Kinsella, Emma E; Wszolek, Zbigniew K ZK; Brott, Thomas G TG; Brown, Robert D RD; Worrall, Bradford B BB; Meschia, James F JF

Publication Date: 2013

Variant appearance in text: NOTCH3: P2074L; rs114447350

PubMed Link: 24086431

Variant Present in the following documents:

• Main text
• pone.0075035.pdf

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: NOTCH3: P2074L

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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