Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.A381P
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TGM1

NM_000359.3:p.A381P

Associated Papers

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

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.

Alallasi SR et al.

Frontiers in Pediatrics, 2019

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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."