Varaico: Literature-Extracted Genetic Variants

Gene:ESRRB
Variant:p.L320P
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ESRRB

NM_001379180.1:p.L320P

Associated Papers

Structural Insights into the Specificity of Ligand Binding and Coactivator Assembly by Estrogen-Related Receptor β.

Yao B et al.

Journal of Molecular Biology, 2020

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Collin RW et al.

American Journal of Human Genetics, 2008

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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."