Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.Y152Y
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GJB2

NM_004004.6:p.Y152Y

Associated Papers

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Riza AL et al.

Genes, 2022

36672810 (PubMed )
Supplement: genes-14-00069-s001.zip › genes-2004703-supplementary.pdf

[The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].

Cui Qingjia et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015

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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."