A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 ( PIK3R1 ) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS).
Calco B, Sweeney CL, Steiner J, Wang T, Markowitz TE, Paul S, Palicha B, Dinges S, Yoo K, Henderson L, McDonald V, De Ravin SS, Greenberg B, Zerbe CS, Notarangelo LD, Holland SM, Nath A, Safavi F.
Calco B, et al. Among authors: nath a.
bioRxiv [Preprint]. 2025 May 28:2025.05.23.655625. doi: 10.1101/2025.05.23.655625.
bioRxiv. 2025.
PMID: 40568112
Free PMC article.
Preprint.