Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R51_W52Splc
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SDS

NM_006843.3:p.R51_W52Splc

Associated Papers

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Jansen GA et al.

Human Molecular Genetics, 2000

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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."