Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.D792N
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RNF216

NM_207111.4:p.D792N

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

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Neocleous V et al.

Orphanet Journal of Rare Diseases, 2024

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.

Neocleous V et al.

Frontiers in Endocrinology, 2020

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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."