Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.E282K
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AAGAB

NM_024666.5:p.E282K

Associated Papers

Oligomer-to-monomer transition underlies the chaperone function of AAGAB in AP1/AP2 assembly.

Tian Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.

Hasegawa A et al.

The Journal of Dermatology, 2021

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