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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF216

Variant:p.Y494*

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RNF216

NM_207111.4:p.Y494*

hg38:chr7:5725346 G>T

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

38050071 (PubMed )

Clinical and genetic characterization of leukoencephalopathies in adults.

Lynch DS et al.

Brain : a Journal of Neurology, 2017

28334938 (PubMed )

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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."