Varaico: Literature-Extracted Genetic Variants

Gene:KDR
Variant:p.E326Splc
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KDR

NM_002253.4:p.E326Splc

Associated Papers

First histological description of pulmonary and vascular abnormalities of pulmonary hypertension associated with KDR pathogenic variant.

Riou M et al.

The European Respiratory Journal, 2022

Familial pulmonary arterial hypertension by KDR heterozygous loss of function.

Eyries M et al.

The European Respiratory Journal, 2020

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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."