Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.A490D
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BMPR2

NM_001204.7:p.A490D

Associated Papers

Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Agnew C et al.

Nature Communications, 2021

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

John A et al.

Gene, 2015

[Bone morphogenetic protein type II receptor gene promoter mutation-142G > A in a patient with familial pulmonary arterial hypertension].

Li W et al.

Zhonghua Yi Xue Za Zhi, 2009

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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."