Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R398*
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SETD2

NM_014159.7:p.R398*

Associated Papers

Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans.

Minervini G et al.

Scientific Reports, 2016

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B et al.

Hypoxia (auckland, N.z.), 2014

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.

Ladroue C et al.

Haematologica, 2012

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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."