Varaico: Literature-Extracted Genetic Variants

Gene:DHRSX
Variant:p.T49M
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DHRSX

NM_145177.3:p.T49M

Associated Papers

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Wilson MP et al.

Cell, 2024

Genetic disorders of dolichol synthesis and utilization.

Pieters E et al.

Molecular Genetics and Metabolism, 0

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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."