Varaico: Literature-Extracted Genetic Variants

Gene:ESRRB
Variant:p.L347P
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ESRRB

NM_004452.4:p.L347P

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

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 ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Lee K et al.

Genetics Research International, 2011

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

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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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."