Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4
Variant:p.S142N
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NIPAL4

NM_001099287.2:p.S142N

Associated Papers

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."