Varaico: Literature-Extracted Genetic Variants

Gene:ESRRG
Variant:p.C180Y
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ESRRG

NM_001438.4:p.C180Y

Associated Papers

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.

Bresack B et al.

American Journal of Human Genetics, 2025

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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."