Varaico: Literature-Extracted Genetic Variants

Gene:GJD2
Variant:p.S123S
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GJD2

NM_020660.3:p.S123S

Associated Papers

A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells.

Cigliola V et al.

Plos One, 2016

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.

Li J et al.

Investigative Ophthalmology & Visual Science, 2015

Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.

Hempelmann A et al.

Epilepsy Research, 2006

Association of the connexin36 gene with juvenile myoclonic epilepsy.

Mas C et al.

Journal of Medical Genetics, 2004

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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."