Publications:

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Three-dimensional missense tolerance ratio analysis.

Genome Research

Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF

Publication Date: 2021-08

Variant appearance in text: GRIN2A: F183I

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: GRIN2A: F183I

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 5

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Experience with targeted next generation sequencing for the care of lung cancer: insights into promises and limitations of genomic oncology in day-to-day practice.

Cancer Treatment Communications

Rangachari, Deepa D; VanderLaan, Paul A PA; Le, Xiuning X; Folch, Erik E; Kent, Michael S MS; Gangadharan, Sidharta P SP; Majid, Adnan A; Haspel, Richard L RL; Joseph, Loren J LJ; Huberman, Mark S MS; Costa, Daniel B DB

Publication Date: 2015

Variant appearance in text: GRIN2A: F183I

PubMed Link: 26601054

Variant Present in the following documents:

• Main text

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GRIN2A: F183I

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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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: GRIN2A: F183I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Detection of Crizotinib-Sensitive Lung Adenocarcinomas With MET, ALK, and ROS1 Genomic Alterations via Comprehensive Genomic Profiling.

Clinical Lung Cancer

Le, Xiuning X; Freed, Jason A JA; VanderLaan, Paul A PA; Huberman, Mark S MS; Rangachari, Deepa D; Jorge, Susan E SE; Lucena-Araujo, Antonio R AR; Kobayashi, Susumu S SS; Balasubramanian, Sohail S; He, Jie J; Chudnovsky, Yakov Y; Miller, Vincent A VA; Ali, Siraj M SM; Costa, Daniel B DB

Publication Date: 2015-09

Variant appearance in text: GRIN2A: F183I

PubMed Link: 25922291

Variant Present in the following documents:

• Main text

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Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Plos One

Churi, Chaitanya R CR; Shroff, Rachna R; Wang, Ying Y; Rashid, Asif A; Kang, HyunSeon C HC; Weatherly, Jacqueline J; Zuo, Mingxin M; Zinner, Ralph R; Hong, David D; Meric-Bernstam, Funda F; Janku, Filip F; Crane, Christopher H CH; Mishra, Lopa L; Vauthey, Jean-Nicholas JN; Wolff, Robert A RA; Mills, Gordon G; Javle, Milind M

Publication Date: 2014

Variant appearance in text: GRIN2A: F183I

PubMed Link: 25536104

Variant Present in the following documents:

• pone.0115383.s001.xlsx, sheet 1

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: GRIN2A: F183I

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.

The Journal Of Investigative Dermatology

Prickett, Todd D TD; Zerlanko, Brad J BJ; Hill, Victoria K VK; Gartner, Jared J JJ; Qutob, Nouar N; Jiang, Jiji J; Simaan, May M; Wunderlich, John J; Gutkind, J Silvio JS; Rosenberg, Steven A SA; Samuels, Yardena Y

Publication Date: 2014-09

Variant appearance in text: GRIN2A: F183I

PubMed Link: 24739903

Variant Present in the following documents:

• NIHMS585518-supplement-supplement_1.pdf

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