Varaico: Literature-Extracted Genetic Variants

Gene:ESRRB
Variant:p.R27G
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ESRRB

NM_001379180.1:p.R27G

Associated Papers

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

Choi WH et al.

Scientific Reports, 2024

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Chen S et al.

Human Genomics, 2022

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

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.

Ji H et al.

Bmc Ear, Nose, and Throat Disorders, 2014

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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."