Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations
J Med Genet. 2025 May 11:jmg-2025-110671. doi: 10.1136/jmg-2025-110671. Online ahead of print. ABSTRACT Biallelic variants in NUP107 cause isolated or syndromic steroid-resistant nephrotic syndrome (SRNS), …