Publications:

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: TERT: 1565G>A

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

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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: TERT: R522K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Nucleic Acids Research

Zaug, Arthur J AJ; Crary, Sharon M SM; Jesse Fioravanti, Matthew M; Campbell, Kristina K; Cech, Thomas R TR

Publication Date: 2013-10

Variant appearance in text: TERT: R522K

PubMed Link: 23901009

Variant Present in the following documents:

• Main text
• supp_gkt653_nar-01604-r-2013-File007.pdf
• gkt653.pdf

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Telomere dysfunction in human diseases: the long and short of it!

International Journal Of Clinical And Experimental Pathology

Carroll, Kathryn A KA; Ly, Hinh H

Publication Date: 2009-05-10

Variant appearance in text: TERT: R522K

PubMed Link: 19636400

Variant Present in the following documents:

• Main text

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Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Calado, Rodrigo T RT; Regal, Joshua A JA; Hills, Mark M; Yewdell, William T WT; Dalmazzo, Leandro F LF; Zago, Marco A MA; Lansdorp, Peter M PM; Hogge, Donna D; Chanock, Stephen J SJ; Estey, Elihu H EH; Falcão, Roberto P RP; Young, Neal S NS

Publication Date: 2009-01-27

Variant appearance in text: TERT: R522K

PubMed Link: 19147845

Variant Present in the following documents:

• Main text

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