Varaico: Literature-Extracted Genetic Variants

Gene:NUP88
Variant:p.D434Y
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NUP88

NM_002532.6:p.D434Y

Associated Papers

Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence.

Jühlen R et al.

Scientific Reports, 2024

38242956 (PubMed )
Supplement: 41598_2023_50615_MOESM1_ESM.pdf

Architecture of the cytoplasmic face of the nuclear pore.

Bley CJ et al.

Science (new York, N.y.), 2022

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

Bonnin E et al.

Plos Genetics, 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."