Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.G273delFs
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TGM1

NM_000359.3:p.G273delFs

Associated Papers

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Almazroea A et al.

Medicina (kaunas, Lithuania), 2023

36676727 (PubMed )
Supplement: medicina-59-00103-s001.zip › medicina-2007344-supplementary.xlsx › Reported_Variants_in_TGM1_Gene

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.

Liu JJ et al.

Clinical and Experimental Dermatology, 2015

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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."