Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.G158fs
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AAGAB

NM_024666.5:p.G158fs

Associated Papers

Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.

Zamiri M et al.

The British Journal of Dermatology, 2019

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

Furniss M et al.

The Journal of Investigative Dermatology, 2014

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.

Pöhler E et al.

The Journal of Investigative Dermatology, 2013

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

Cui H et al.

The Journal of Investigative Dermatology, 2013

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Pohler E et al.

Nature Genetics, 2012

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.

Elhaji Y et al.

Journal of Cutaneous Medicine and Surgery, 0

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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."