Varaico: Literature-Extracted Genetic Variants

Gene:ESRRB
Variant:p.Y305H
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ESRRB

NM_004452.4:p.Y305H

Associated Papers

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

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.

Šafka Brožková D et al.

International Journal of Pediatric Otorhinolaryngology, 2012

A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family.

Ben Saïd M et al.

European Journal of Medical Genetics, 0

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