PC c.1711_1712delinsTA ;(p.R571*)

Variant ID: 11-66620023-CT-TA

NM_001040716.1(PC):c.1711_1712delinsTA;(p.R571*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.

Frontiers In Neurology
Federighi, Pamela P; Ramat, Stefano S; Rosini, Francesca F; Pretegiani, Elena E; Federico, Antonio A; Rufa, Alessandra A
Publication Date: 2017

Variant appearance in text: PC: R571X
PubMed Link: 29170652
Variant Present in the following documents:
  • Main text
  • fneur-08-00596.pdf
View BVdb publication page