Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D51N
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GJA3

NM_021954.4:p.D51N

Associated Papers

Calcium Regulation of Connexin Hemichannels.

Bayraktar E et al.

International Journal of Molecular Sciences, 2024

Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.

Zhou L et al.

European Journal of Ophthalmology, 2024

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

Mechanism of gating by calcium in connexin hemichannels.

Lopez W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

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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."