Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.A94T
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NSDHL

NM_015922.3:p.A94T

Associated Papers

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

Cunningham D et al.

Human Molecular Genetics, 2010

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

Caldas H et al.

Molecular Genetics and Metabolism, 2005

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

Caldas H et al.

Human Molecular Genetics, 2003

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

Lucas ME 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."