Publications:

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology

Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H

Publication Date: 2021

Variant appearance in text: ATM: 6205C>T; Gln2069*

PubMed Link: 35095854

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.

Neurology. Genetics

Krenn, Martin M; Milenkovic, Ivan I; Eckstein, Gertrud G; Zimprich, Fritz F; Meitinger, Thomas T; Foki, Thomas T; Wagner, Matias M

Publication Date: 2019-08

Variant appearance in text: ATM: 6205C>T; Gln2069*

PubMed Link: 31403082

Variant Present in the following documents:

• Main text
• NG2019010561.pdf

View BVdb publication page

Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics

Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2014-12

Variant appearance in text: ATM: Q2069X

PubMed Link: 25530832

Variant Present in the following documents:

• Main text

View BVdb publication page