Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.K61R
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GJB2

NM_004004.6:p.K61R

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

Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y).

Lopez W et al.

The Journal of General Physiology, 2013

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