Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L.
Weis D, et al. Among authors: wang hh, wang z.
J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882.
J Clin Invest. 2024.
PMID: 37943617
Free PMC article.