Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.Q264*
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ABCA12

NM_173076.3:p.Q264*

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."