Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.G375D
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TGM1

NM_000359.3:p.G375D

Associated Papers

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.

Lixiang W et al.

The Journal of International Medical Research, 2025

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.

Gülnerman EK et al.

Annals of Dermatology, 2023

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
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