Varaico: Literature-Extracted Genetic Variants

Gene:DEGS2
Variant:p.H132R
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DEGS2

NM_206918.3:p.H132R

Associated Papers

Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.

Dei Cas M et al.

Journal of Lipid Research, 2024

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