Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.S230*
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PRNP

NM_000311.5:p.S230*

Associated Papers

Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.

Janicki PK et al.

Molecular Medicine Reports, 2019

30816480 (PubMed )
Supplement: supplement_2.pdf

alpha-Helical domains promote translocation of intrinsically disordered polypeptides into the endoplasmic reticulum.

Miesbauer M et al.

The Journal of Biological Chemistry, 2009

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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."