Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.D294_H295delFs
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TGM1

NM_000359.3:p.D294_H295delFs

Associated Papers

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML et al.

Human Mutation, 2009

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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."