Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.E47*
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GJB3

NM_024009.3:p.E47*

Associated Papers

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz N et al.

European Journal of Human Genetics : Ejhg, 2002

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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."