Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.K41E
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GJB2

NM_004004.6:p.K41E

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

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

Han SH et al.

Journal of Human Genetics, 2008

Molecular determinants of electrical rectification of single channel conductance in gap junctions formed by connexins 26 and 32.

Oh S et al.

The Journal of General Physiology, 1999

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