Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.I361delFs
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TGM1

NM_000359.3:p.I361delFs

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

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

Rasheed M et al.

Pediatrics and Neonatology, 2018

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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."