TERT c.251T>A ;(p.V84E)

Variant ID: 5-1294750-A-T

NM_198253.2(TERT):c.251T>A;(p.V84E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: V84E
PubMed Link: 30995915
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1046.pdf
View BVdb publication page