Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.G316S
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GJA4

NM_002060.3:p.G316S

Associated Papers

Cellular mechanisms of connexin-based inherited diseases.

Laird DW et al.

Trends in Cell Biology, 2022

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.

Bachelot A et al.

International Journal of Molecular Medicine, 2018

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
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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."