Varaico: Literature-Extracted Genetic Variants

Gene:ABHD5
Variant:p.G259D
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ABHD5

NM_016006.6:p.G259D

Associated Papers

A rare cause of lipid metabolism disorder and cirrhosis in an adult.

Sun SS et al.

Journal of Hepatology, 2025

An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis.

Habash N et al.

Jpgn Reports, 2021

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.

Jiang X et al.

International Journal of Dermatology, 2021

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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."