Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R76S
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GJA3

NM_021954.4:p.R76S

Associated Papers

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

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

De Bock M et al.

Frontiers in Pharmacology, 2013

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