Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.E289K
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KDSR

NM_002035.4:p.E289K

Associated Papers

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Pilz R et al.

Human Molecular Genetics, 2022

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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."