Varaico: Literature-Extracted Genetic Variants

Gene:TGM7
Variant:p.Y276N
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TGM7

NM_052955.3:p.Y276N

Associated Papers

Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.

Thangaraju K et al.

Plos One, 2017

28248968 (PubMed )
Supplement: pone.0172189.s003.pdf

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

Oji V et al.

Human Molecular Genetics, 2006

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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."