Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.C53S
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P4HB

NM_000918.4:p.C53S

Associated Papers

The Redox Activity of Protein Disulfide Isomerase Inhibits ALS Phenotypes in Cellular and Zebrafish Models.

Parakh S et al.

Iscience, 2020

Short stature explained by dimerization of human growth hormone induced by a p.C53S point mutation.

Sander M et al.

The Journal of Biological Chemistry, 2020

Design, Synthesis, and Biological Evaluation of Novel Allosteric Protein Disulfide Isomerase Inhibitors.

Yang S et al.

Journal of Medicinal Chemistry, 2019

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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."