Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E110D
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GJB2

NM_004004.6:p.E110D

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

Syndromic and non-syndromic disease-linked Cx43 mutations.

Laird DW

Febs Letters, 2014

Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.

Laird DW

The Journal of Biological Chemistry, 2008

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