Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.A477V
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NUP85

NM_024844.5:p.A477V

Associated Papers

Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.

Han Y et al.

Italian Journal of Pediatrics, 2024

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Gambadauro A et al.

Genes, 2023

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

Jühlen R et al.

Febs Letters, 2023

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly.

Ravindran E et al.

Frontiers in Neurology, 2023

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA et al.

The Journal of Clinical Investigation, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."