Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.S89S
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PODXL

NM_001018111.3:p.S89S

Associated Papers

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

Balestra D et al.

International Journal of Molecular Sciences, 2019

Protein C mutation (A267T) results in ER retention and unfolded protein response activation.

Tjeldhorn L et al.

Plos One, 2011

Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain.

Greengard JS et al.

Proteins, 1994

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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."