Primary Source #253:

Li L, Yi Z, Xi H, et al. Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. Ital J Pediatr. 2019;45(1):109. Published 2019 Aug 23. doi:10.1186/s13052-019-0690-2

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