Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.L81L
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GJB2

NM_004004.6:p.L81L

Associated Papers

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.

Salame M et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2023

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Babanejad M et al.

American Journal of Medical Genetics. Part A, 2012

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Santos RL et al.

Journal of Molecular Medicine (berlin, Germany), 2006

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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."