Varaico: Literature-Extracted Genetic Variants

Gene:DHRSX
Variant:p.L215F
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DHRSX

NM_145177.3:p.L215F

Associated Papers

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Wilson MP et al.

Cell, 2024

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Costain G et al.

Jama Network Open, 2020

32960281 (PubMed )
Supplement: jamanetwopen-e2018109-s001.pdf

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."