Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.G357D
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TGM1

NM_000359.3:p.G357D

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

Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis.

Numata S et al.

Experimental Dermatology, 2016

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

Mazereeuw-Hautier J et al.

The British Journal of Dermatology, 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."