Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.E267K
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EGLN1

NM_022051.3:p.E267K

Associated Papers

EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance.

Li S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."