Publications:

Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Frontiers In Immunology

Blanchard-Rohner, Geraldine G; Peirolo, Anna A; Coulon, Ludivine L; Korff, Christian C; Horvath, Judit J; Burkhard, Pierre R PR; Gumy-Pause, Fabienne F; Ranza, Emmanuelle E; Jandus, Peter P; Dibra, Harpreet H; Taylor, Alexander Malcolm R AMR; Fluss, Joel J

Publication Date: 2022

Variant appearance in text: ATM: 2455T>C; Cys819Arg

PubMed Link: 35154108

Variant Present in the following documents:

• Main text
• fimmu-13-791522.pdf

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 2455T>C; Cys819Arg; rs775644968

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page