Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.P352A
Back to variants list

TGM1

NM_000359.3:p.P352A

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".

Chacon-Camacho OF et al.

European Journal of Medical Genetics, 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

High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.

González-Del Carmen M et al.

International Journal of Dermatology, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."