Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.P275S
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PEX7

NM_000288.4:p.P275S

Associated Papers

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

Jansen GA et al.

Journal of Inherited Metabolic Disease, 1998

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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."