Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.F102F
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NSDHL

NM_015922.3:p.F102F

Associated Papers

The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.

Seeger MA et al.

Biochimica Et Biophysica Acta, 2014

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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."