Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.F699L
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NUP93

NM_014669.5:p.F699L

Associated Papers

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

Jühlen R et al.

Febs Letters, 2023

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G et al.

Cerebellum (london, England), 2019

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G et al.

Cerebellum (london, England), 2019

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