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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF2

Variant:p.S82N

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RNF2

NM_007212.4:p.S82N

hg38:chr1:185091736 G>A

Associated Papers

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Luo X et al.

Human Molecular Genetics, 2021

33864376 (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."