Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.P663L
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RNF216

NM_207111.4:p.P663L

Associated Papers

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

Wu C et al.

Journal of Medical Genetics, 2024

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

Durmaz Çelik N et al.

Bmc Medical Genomics, 2023

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.

Calandra CR et al.

Movement Disorders Clinical Practice, 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."