Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.V297A
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TGM1

NM_000359.3:p.V297A

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

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Li W et al.

Pediatric Dermatology, 2020

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC et al.

The British Journal of Dermatology, 2010

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