ATM c.5675_5733del ;(p.E1892Gfs*18)

Variant ID: 11-108178624-GAGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACAAAGAACAATGCTTGCT-G

NM_000051.3(ATM):c.5675_5733del;(p.E1892Gfs*18)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency.

Cell Death & Disease
Carlessi, L L; Fusar Poli, E E; Bechi, G G; Mantegazza, M M; Pascucci, B B; Narciso, L L; Dogliotti, E E; Sala, C C; Verpelli, C C; Lecis, D D; Delia, D D
Publication Date: 2014-07-17

Variant appearance in text: ATM: 5675_5762del
PubMed Link: 25032865
Variant Present in the following documents:
  • Main text
  • cddis2014310a.pdf
View BVdb publication page