Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V178M
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GJB2

NM_004004.6:p.V178M

Associated Papers

Transcriptomic analysis of ROS1+ non-small cell lung cancer reveals an upregulation of nucleotide synthesis and cell adhesion pathways.

Terrones M et al.

Frontiers in Oncology, 2024

Genetic etiology of hearing loss in Russia.

Posukh OL

Human Genetics, 2022

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Bliznetz EA et al.

Journal of Human Genetics, 2017

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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."