Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.D177A
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PHYH

NM_006214.4:p.D177A

Associated Papers

Structural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome.

Hou CX et al.

The Journal of Biological Chemistry, 2025

Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).

Schofield CJ et al.

Biochemical Society Transactions, 2007

Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.

Searls T et al.

Journal of Lipid Research, 2005

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.

Mukherji M et al.

Human Molecular Genetics, 2001

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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."