Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.D179Splc
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AAGAB

NM_024666.5:p.D179Splc

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

Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.

Furniss M et al.

The Journal of Investigative Dermatology, 2014

Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.

Cui H et al.

The Journal of Investigative Dermatology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."