Varaico: Literature-Extracted Genetic Variants

Gene:PRKG1
Variant:p.T265M
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PRKG1

NM_001098512.3:p.T265M

Associated Papers

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.

Ziganshin BA et al.

The Annals of Thoracic Surgery, 2015

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

Guo DC et al.

American Journal of Human Genetics, 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."