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: PKLR: 1151C>T; Thr384Met

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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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: PKLR: 1151C>T; T384M

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Frontiers In Physiology

Fermo, Elisa E; Vercellati, Cristina C; Marcello, Anna Paola AP; Keskin, Ebru Yilmaz EY; Perrotta, Silverio S; Zaninoni, Anna A; Brancaleoni, Valentina V; Zanella, Alberto A; Giannotta, Juri A JA; Barcellini, Wilma W; Bianchi, Paola P

Publication Date: 2021

Variant appearance in text: PKLR: 1151C>T; T384M; rs74315362

PubMed Link: 34093240

Variant Present in the following documents:

• Main text
• fphys-12-684569.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PKLR: 1151C>T; Thr384Met; rs74315362

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs74315362

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

Blood

Kung, Charles C; Hixon, Jeff J; Kosinski, Penelope A PA; Cianchetta, Giovanni G; Histen, Gavin G; Chen, Yue Y; Hill, Collin C; Gross, Stefan S; Si, Yaguang Y; Johnson, Kendall K; DeLaBarre, Byron B; Luo, Zhiyong Z; Gu, Zhiwei Z; Yao, Gui G; Tang, Huachun H; Fang, Cheng C; Xu, Yingxia Y; Lv, Xiaobing X; Biller, Scott S; Su, Shin-San Michael SM; Yang, Hua H; Popovici-Muller, Janeta J; Salituro, Francesco F; Silverman, Lee L; Dang, Lenny L

Publication Date: 2017-09-14

Variant appearance in text: PKLR: T384M

PubMed Link: 28760888

Variant Present in the following documents:

• Main text

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: PKLR: 1151C>T; T384M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PKLR: T384M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: PKLR: T384M

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PKLR: T384M

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

Plos One

B, Rajith R; C, George Priya Doss GP

Publication Date: 2011

Variant appearance in text: PKLR: T384M; rs74315362

PubMed Link: 21931771

Variant Present in the following documents:

• Main text
• pone.0024607.pdf

View BVdb publication page

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