Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS2
Variant:p.C43Y
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PAPSS2

NM_001015880.2:p.C43Y

Associated Papers

Disease-Related Protein Variants of the Highly Conserved Enzyme PAPSS2 Show Marginal Stability and Aggregation in Cells.

Brylski O et al.

Frontiers in Molecular Biosciences, 2022

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.

Oostdijk W et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A et al.

Human Mutation, 2013

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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."