Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.Q292_F293insFs
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TGM1

NM_000359.3:p.Q292_F293insFs

Associated Papers

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Shevchenko YO et al.

Human Genetics, 2000

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

Pigg M et al.

European Journal of Human Genetics : Ejhg, 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."