Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.I714T
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NUP93

NM_014669.5:p.I714T

Associated Papers

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.

Jühlen R et al.

Febs Letters, 2023

End-stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant.

Acharya R et al.

Clinical Case Reports, 2021

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