Varaico: Literature-Extracted Genetic Variants

Gene:ESPN
Variant:p.A586insFs
Back to variants list

ESPN

NM_031475.3:p.A586insFs

Associated Papers

Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.

Sidenna M et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

Chakchouk I et al.

The Journal of Molecular Diagnostics : Jmd, 2015

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Boulouiz R et al.

American Journal of Medical Genetics. Part A, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."