ATM c.2152dup ;(p.C718Lfs*20)

Variant ID: 11-108126968-G-GT

NM_000051.3(ATM):c.2152dup;(p.C718Lfs*20)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International Journal Of Molecular Sciences
Galatolo, Daniele D; De Michele, Giovanna G; Silvestri, Gabriella G; Leuzzi, Vincenzo V; Casali, Carlo C; Musumeci, Olimpia O; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Caputi, Caterina C; Cioffi, Ettore E; De Michele, Giuseppe G; Dotti, Maria Teresa MT; Fico, Tommasina T; Fiorillo, Chiara C; Galosi, Serena S; Lieto, Maria M; Malandrini, Alessandro A; Melone, Marina A B MAB; Mignarri, Andrea A; Natale, Gemma G; Pegoraro, Elena E; Petrucci, Antonio A; Ricca, Ivana I; Riso, Vittorio V; Rossi, Salvatore S; Rubegni, Anna A; Scarlatti, Arianna A; Tinelli, Francesca F; Trovato, Rosanna R; Tedeschi, Gioacchino G; Tessa, Alessandra A; Filla, Alessandro A; Santorelli, Filippo Maria FM
Publication Date: 2021-08-06

Variant appearance in text: ATM: 2152dupT
PubMed Link: 34445196
Variant Present in the following documents:
  • Main text
  • ijms-22-08490.pdf
View BVdb publication page