Varaico: Literature-Extracted Genetic Variants

Gene:TGM5
Variant:p.T109M
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TGM5

NM_201631.4:p.T109M

Associated Papers

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

Szczecinska W et al.

The British Journal of Dermatology, 2014

Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy.

Kavaklieva S et al.

Case Reports in Dermatology, 2013

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

Pigors M et al.

The Journal of Investigative Dermatology, 2012

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.

van der Velden JJ et al.

Journal of Dermatological Science, 2012

Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.

Kiritsi D et al.

The Journal of Investigative Dermatology, 2010

A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.

Kharfi M et al.

The Journal of Investigative Dermatology, 2009

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Cassidy AJ et al.

American Journal of Human Genetics, 2005

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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."