Varaico: Literature-Extracted Genetic Variants

Gene:ESRRB
Variant:p.R382C
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ESRRB

NM_004452.4:p.R382C

Associated Papers

Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).

Choi WH et al.

Scientific Reports, 2024

A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.

Ghasemnejad T et al.

Bmc Medical Genomics, 2022

Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.

Mat Yusoff Y et al.

Molecular Cytogenetics, 2021

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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."