Varaico: Literature-Extracted Genetic Variants

Gene:NUP205
Variant:p.P1610R
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NUP205

NM_015135.3:p.P1610R

Associated Papers

Non-classical functions of nuclear pore proteins in ciliopathy.

Chen Y et al.

Frontiers in Molecular Biosciences, 2023

Nucleoporin NUP205 plays a critical role in cilia and congenital disease.

Marquez J et al.

Developmental Biology, 2021

Nucleoporins in cardiovascular disease.

Burdine RD et al.

Journal of Molecular and Cellular Cardiology, 2020

Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning.

Chen W et al.

Circulation. Genomic and Precision Medicine, 2019

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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."