Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F392S
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PAH

NM_000277.3:p.F392S

Associated Papers

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Zhao Q et al.

Radiology, 2023

37191488 (PubMed )
Supplement: ry222488suppa1.pdf

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D et al.

The European Respiratory Journal, 2012

[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].

Lu CX et al.

Zhonghua Yi Xue Za Zhi, 2011

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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."