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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF220

Variant:p.R365G

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RNF220

NM_018150.4:p.R365G

hg38:chr1:44636129 C>G

Associated Papers

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Sferra A et al.

Brain : a Journal of Neurology, 2021

33964137 (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."