Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.Q239*
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SORD

NM_003104.6:p.Q239*

Associated Papers

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B et al.

Hypoxia (auckland, N.z.), 2014

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 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."