Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L321F
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PAH

NM_000277.3:p.L321F

Associated Papers

Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.

Montani D et al.

The European Respiratory Journal, 2021

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.

Gamou S et al.

Clinical Genetics, 2018

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

Wang H et al.

Clinical Genetics, 2010

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD et al.

Human Mutation, 2006

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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."