Varaico: Literature-Extracted Genetic Variants

Gene:TGM5
Variant:p.A111fs
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TGM5

NM_201631.4:p.A111fs

Associated Papers

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.

Savostyanov K et al.

International Journal of Molecular Sciences, 2022

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

Szczecinska W et al.

The British Journal of Dermatology, 2014

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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."