Publications:

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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet Journal Of Rare Diseases

Arias-Salgado, Elena G EG; Galvez, Eva E; Planas-Cerezales, Lurdes L; Pintado-Berninches, Laura L; Vallespin, Elena E; Martinez, Pilar P; Carrillo, Jaime J; Iarriccio, Laura L; Ruiz-Llobet, Anna A; Catalá, Albert A; Badell-Serra, Isabel I; Gonzalez-Granado, Luis I LI; Martín-Nalda, Andrea A; Martínez-Gallo, Mónica M; Galera-Miñarro, Ana A; Rodríguez-Vigil, Carmen C; Bastos-Oreiro, Mariana M; Perez de Nanclares, Guiomar G; Leiro-Fernández, Virginia V; Uria, Maria-Luz ML; Diaz-Heredia, Cristina C; Valenzuela, Claudia C; Martín, Sara S; López-Muñiz, Belén B; Lapunzina, Pablo P; Sevilla, Julian J; Molina-Molina, María M; Perona, Rosario R; Sastre, Leandro L

Publication Date: 2019-04-17

Variant appearance in text: TERT: P65A

PubMed Link: 30995915

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1046.pdf

View BVdb publication page

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Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS

Publication Date: 2019-07

Variant appearance in text: TERT: 193C>G; P65A

PubMed Link: 30523342

Variant Present in the following documents:

• 41436_2018_385_MOESM1_ESM.pdf

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: TERT: P65A

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: P65A

PubMed Link: 23901009

Variant Present in the following documents:

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

View BVdb publication page

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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: P65A

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: P65A

PubMed Link: 19147845

Variant Present in the following documents:

• Main text

View BVdb publication page

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