Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.Q391P
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NUP62

NM_016553.5:p.Q391P

Associated Papers

Interactions between FUS and the C-terminal Domain of Nup62 are Sufficient for their Co-phase Separation into Amorphous Assemblies.

Kumar MS et al.

Journal of Molecular Biology, 2023

Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.

Harrer P et al.

Annals of Neurology, 2023

Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy.

Palazzo AF et al.

Nucleus (austin, Tex.), 2022

A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood.

Bi H et al.

Frontiers in Neurology, 2021

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Mutant Huntingtin Disrupts the Nuclear Pore Complex.

Grima JC et al.

Neuron, 2017

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Halevy A et al.

Pediatric Neurology, 2012

Molecular architecture of the transport channel of the nuclear pore complex.

Solmaz SR et al.

Cell, 2011

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Basel-Vanagaite L et al.

Annals of Neurology, 2006

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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."