Varaico: Literature-Extracted Genetic Variants

Gene:SLPI
Variant:p.C118W
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SLPI

NM_003064.4:p.C118W

Associated Papers

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

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."