Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.E650*
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RNF216

NM_207111.4:p.E650*

Associated Papers

Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.

Xu W et al.

Cell Biochemistry and Function, 2024

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.

Wu C et al.

Journal of Medical Genetics, 2024

Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T.

Xu W et al.

Stem Cell Research, 2024

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Durmaz Çelik N et al.

Bmc Medical Genomics, 2023

Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.

Chen KL et al.

Journal of Molecular Neuroscience : Mn, 2022

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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."