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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF170

Variant:p.R249Q

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RNF170

NM_030954.4:p.R249Q

hg38:chr8:42856190 C>T

Associated Papers

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.

Van Daele SH et al.

European Journal of Neurology, 2022

34469621 (PubMed )

Supplement: ENE-29-345-s001.docx

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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."