Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.G126R
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EDN1

NM_001955.5:p.G126R

Associated Papers

The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.

Sarangi S et al.

Pediatric Blood & Cancer, 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."