Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.E519G
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TGM1

NM_000359.3:p.E519G

Associated Papers

A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.

Boeshans KM et al.

Journal of Molecular Modeling, 2007

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.

Esposito G et al.

The Journal of Investigative Dermatology, 2001

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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."