ATM c.2393T>C ;(p.I798T)

Variant ID: 11-108129729-T-C

NM_000051.3(ATM):c.2393T>C;(p.I798T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Biomedicines
Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA
Publication Date: 2020-09-05

Variant appearance in text: ATM: 2393T>C
PubMed Link: 32899500
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00332.pdf
View BVdb publication page