Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.S106*
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NSDHL

NM_015922.3:p.S106*

Associated Papers

Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.

Paller AS et al.

The Journal of Investigative Dermatology, 2011

Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.

Elias PM et al.

Dermato-endocrinology, 2011

Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

Elias PM et al.

Clinics in Dermatology, 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."