Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.W171*
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AAGAB

NM_024666.5:p.W171*

Associated Papers

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

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

Giehl KA et al.

Acta Dermato-venereologica, 2016

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