A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS).
磷脂酰肌醇 3-激酶调节亚基 1 (PIK3R1) 中的一种新型移码突变会导致免疫缺陷和肌萎缩侧索硬化症 (ALS)
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doi:10.1101/2025.05.23.655625
Calco Brice, Sweeney Colin L, Steiner Joseph, Wang Tongguang, Markowitz Tovah E, Paul Subrata, Palicha Bianca, Dinges Sara, Yoo Kelsey, Henderson Lisa, McDonald Valerie, De Ravin Suk See, Greenberg Benjamin, Zerbe Christa S, Notarangelo Luigi D, Holland Steven M, Nath Avindra, Safavi Farinaz