Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D3N
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GJA3

NM_021954.4:p.D3N

Associated Papers

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

Ishorst N et al.

Molecular Genetics & Genomic Medicine, 2023

36468602 (PubMed )
Supplement: MGG3-11-e2109-s001.pdf

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.

Schlingmann B et al.

Journal of Bioenergetics and Biomembranes, 2012

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Shao Q et al.

Molecular Biology of the Cell, 2012

Correlative studies of gating in Cx46 and Cx50 hemichannels and gap junction channels.

Srinivas M et al.

Biophysical Journal, 2005

Molecular basis of voltage dependence of connexin channels: an integrative appraisal.

González D et al.

Progress in Biophysics and Molecular Biology, 0

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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."