Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.M157T
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GJB2

NM_004004.6:p.M157T

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

The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.

Liu WT et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

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